ClinVar

NM_016203.4(PRKAG2):c.695C>T (p.Ala232Val)

Genes:

LOC129999660:ATAC-STARR-seq lymphoblastoid silent region 18823 [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: 151632128 (on Assembly GRCh38)
• Chr7: 151329214 (on Assembly GRCh37)

Preferred name:

NM_016203.4(PRKAG2):c.695C>T (p.Ala232Val)

HGVS:

• NC_000007.14:g.151632128G>A
• NG_007486.2:g.250104C>T
• NM_001040633.2:c.563C>T
• NM_001304527.2:c.323C>T
• NM_001304531.2:c.-29C>T
• NM_001363698.2:c.323C>T
• NM_016203.4:c.695C>TMANE SELECT
• NM_024429.2:c.-29C>T
• NP_001035723.1:p.Ala188Val
• NP_001291456.1:p.Ala108Val
• NP_001350627.1:p.Ala108Val
• NP_057287.2:p.Ala232Val
• LRG_430t1:c.695C>T
• LRG_430:g.250104C>T
• LRG_430p1:p.Ala232Val
• NC_000007.13:g.151329214G>A
• NG_007486.1:g.250103C>T
• NM_016203.3:c.695C>T

This HGVS expression did not pass validation

Protein change:

A108V

Links:

dbSNP: rs1338523761

NCBI 1000 Genomes Browser:

rs1338523761

Molecular consequence:

• NM_001304531.2:c.-29C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_024429.2:c.-29C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001040633.2:c.563C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304527.2:c.323C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363698.2:c.323C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016203.4:c.695C>T - missense variant - [Sequence Ontology: SO:0001583]