ClinVar

NM_016203.4(PRKAG2):c.1565A>G (p.Asp522Gly)

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: 151564097 (on Assembly GRCh38)
• Chr7: 151261183 (on Assembly GRCh37)

Preferred name:

NM_016203.4(PRKAG2):c.1565A>G (p.Asp522Gly)

HGVS:

• NC_000007.14:g.151564097T>C
• NG_007486.2:g.318135A>G
• NM_001040633.2:c.1433A>G
• NM_001304527.2:c.1190A>G
• NM_001304531.2:c.842A>G
• NM_001363698.2:c.1193A>G
• NM_016203.4:c.1565A>GMANE SELECT
• NM_024429.2:c.842A>G
• NP_001035723.1:p.Asp478Gly
• NP_001291456.1:p.Asp397Gly
• NP_001291460.1:p.Asp281Gly
• NP_001350627.1:p.Asp398Gly
• NP_057287.2:p.Asp522Gly
• NP_077747.1:p.Asp281Gly
• LRG_430t1:c.1565A>G
• LRG_430:g.318135A>G
• LRG_430p1:p.Asp522Gly
• NC_000007.13:g.151261183T>C
• NG_007486.1:g.318134A>G
• NM_016203.3:c.1565A>G

This HGVS expression did not pass validation

Protein change:

D281G

Links:

dbSNP: rs2150988481

NCBI 1000 Genomes Browser:

rs2150988481

Molecular consequence:

• NM_001040633.2:c.1433A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304527.2:c.1190A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304531.2:c.842A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363698.2:c.1193A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_016203.4:c.1565A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_024429.2:c.842A>G - missense variant - [Sequence Ontology: SO:0001583]