ClinVar

NM_016203.4(PRKAG2):c.1355T>G (p.Phe452Cys)

Gene:

PRKAG2:protein kinase AMP-activated non-catalytic subunit gamma 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

• Chr7: 151565764 (on Assembly GRCh38)
• Chr7: 151262850 (on Assembly GRCh37)

Preferred name:

NM_016203.4(PRKAG2):c.1355T>G (p.Phe452Cys)

HGVS:

• NC_000007.14:g.151565764A>C
• NG_007486.2:g.316468T>G
• NM_001040633.2:c.1223T>G
• NM_001304527.2:c.980T>G
• NM_001304531.2:c.632T>G
• NM_001363698.2:c.983T>G
• NM_001407021.1:c.1355T>G
• NM_001407022.1:c.1352T>G
• NM_001407023.1:c.1352T>G
• NM_001407024.1:c.1223T>G
• NM_001407026.1:c.1220T>G
• NM_001407027.1:c.1220T>G
• NM_001407028.1:c.983T>G
• NM_001407029.1:c.980T>G
• NM_001407030.1:c.1067T>G
• NM_001407031.1:c.1064T>G
• NM_001407032.1:c.1037T>G
• NM_001407033.1:c.1031T>G
• NM_001407034.1:c.632T>G
• NM_001407035.1:c.632T>G
• NM_001407036.1:c.629T>G
• NM_001407037.1:c.692T>G
• NM_001407038.1:c.680T>G
• NM_001407039.1:c.629T>G
• NM_001407040.1:c.629T>G
• NM_016203.4:c.1355T>GMANE SELECT
• NM_024429.2:c.632T>G
• NP_001035723.1:p.Phe408Cys
• NP_001291456.1:p.Phe327Cys
• NP_001291460.1:p.Phe211Cys
• NP_001350627.1:p.Phe328Cys
• NP_001393950.1:p.Phe452Cys
• NP_001393951.1:p.Phe451Cys
• NP_001393952.1:p.Phe451Cys
• NP_001393953.1:p.Phe408Cys
• NP_001393955.1:p.Phe407Cys
• NP_001393956.1:p.Phe407Cys
• NP_001393957.1:p.Phe328Cys
• NP_001393958.1:p.Phe327Cys
• NP_001393959.1:p.Phe356Cys
• NP_001393960.1:p.Phe355Cys
• NP_001393961.1:p.Phe346Cys
• NP_001393962.1:p.Phe344Cys
• NP_001393963.1:p.Phe211Cys
• NP_001393964.1:p.Phe211Cys
• NP_001393965.1:p.Phe210Cys
• NP_001393966.1:p.Phe231Cys
• NP_001393967.1:p.Phe227Cys
• NP_001393968.1:p.Phe210Cys
• NP_001393969.1:p.Phe210Cys
• NP_057287.2:p.Phe452Cys
• NP_077747.1:p.Phe211Cys
• LRG_430t1:c.1355T>G
• LRG_430:g.316468T>G
• LRG_430p1:p.Phe452Cys
• NC_000007.13:g.151262850A>C
• NM_016203.3:c.1355T>G

This HGVS expression did not pass validation

Protein change:

F210C

Molecular consequence:

• NM_001040633.2:c.1223T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304527.2:c.980T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304531.2:c.632T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363698.2:c.983T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407021.1:c.1355T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407022.1:c.1352T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407023.1:c.1352T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407024.1:c.1223T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407026.1:c.1220T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407027.1:c.1220T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407028.1:c.983T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407029.1:c.980T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407030.1:c.1067T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407031.1:c.1064T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407032.1:c.1037T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407033.1:c.1031T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407034.1:c.632T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407035.1:c.632T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407036.1:c.629T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407037.1:c.692T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407038.1:c.680T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407039.1:c.629T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407040.1:c.629T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_016203.4:c.1355T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_024429.2:c.632T>G - missense variant - [Sequence Ontology: SO:0001583]