ClinVar

NM_016203.4(PRKAG2):c.1030C>T (p.His344Tyr)

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: 151572685 (on Assembly GRCh38)
• Chr7: 151269771 (on Assembly GRCh37)

Preferred name:

NM_016203.4(PRKAG2):c.1030C>T (p.His344Tyr)

HGVS:

• NC_000007.14:g.151572685G>A
• NG_007486.1:g.309546C>T
• NG_007486.2:g.309547C>T
• NM_001040633.2:c.898C>T
• NM_001304527.2:c.655C>T
• NM_001304531.2:c.307C>T
• NM_001363698.2:c.658C>T
• NM_016203.4:c.1030C>TMANE SELECT
• NM_024429.2:c.307C>T
• NP_001035723.1:p.His300Tyr
• NP_001291456.1:p.His219Tyr
• NP_001291460.1:p.His103Tyr
• NP_001350627.1:p.His220Tyr
• NP_057287.2:p.His344Tyr
• NP_077747.1:p.His103Tyr
• LRG_430t1:c.1030C>T
• LRG_430:g.309547C>T
• LRG_430p1:p.His344Tyr
• NC_000007.13:g.151269771G>A
• NM_016203.3:c.1030C>T

This HGVS expression did not pass validation

Protein change:

H103Y

Links:

dbSNP: rs727504392

NCBI 1000 Genomes Browser:

rs727504392

Molecular consequence:

• NM_001040633.2:c.898C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304527.2:c.655C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304531.2:c.307C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363698.2:c.658C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016203.4:c.1030C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024429.2:c.307C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1