Canonical Allele Identifier: CA314738
Gene: GABRG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 205551
ClinVar RCV Id: RCV000187533
dbSNP Id: rs796052511

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162149214C>G , CM000667.2:g.162149214C>G GRCh38
NC_000005.9:g.161576220C>G , CM000667.1:g.161576220C>G GRCh37
NC_000005.8:g.161508798C>G NCBI36
NG_009290.1:g.86573C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356592.8:c.1030C>G
ENST00000361925.9:c.1149C>G ENSP00000354651.5:p.Phe383Leu
ENST00000523372.2:c.1112C>G
ENST00000638253.1:n.283C>G
ENST00000638552.1:c.744C>G ENSP00000491763.1:p.Phe248Leu
ENST00000638660.1:c.744C>G ENSP00000492869.1:p.Phe248Leu
ENST00000638772.1:c.1029C>G ENSP00000491557.1:p.Phe343Leu
ENST00000638877.1:c.906C>G
ENST00000639046.1:c.420C>G ENSP00000492659.1:p.Phe140Leu
ENST00000639111.2:c.1029C>G ENSP00000492125.2:p.Phe343Leu
ENST00000639213.2:c.1029C>G MANE Select ENSP00000491909.2:p.Phe343Leu
ENST00000639278.1:c.957C>G ENSP00000491958.1:p.Phe319Leu
ENST00000639384.1:c.1029C>G ENSP00000491240.1:p.Phe343Leu
ENST00000639424.1:c.*229C>G ENSP00000491245.1:n.*229C>G
ENST00000639683.1:c.963C>G ENSP00000492581.1:p.Phe321Leu
ENST00000639975.1:c.963C>G ENSP00000492096.1:p.Phe321Leu
ENST00000640500.1:n.327C>G
ENST00000640574.1:c.744C>G ENSP00000491582.1:p.Phe248Leu
ENST00000640739.1:n.3560C>G
ENST00000640910.1:c.467C>G
ENST00000640985.1:c.942C>G ENSP00000492293.1:p.Phe314Leu
ENST00000641017.1:c.1029C>G ENSP00000493461.1:p.Phe343Leu
ENST00000356592.7:c.1029C>G ENSP00000349000.3:p.Phe343Leu
ENST00000361925.8:c.1029C>G ENSP00000354651.4:p.Phe343Leu
ENST00000414552.6:c.1149C>G ENSP00000410732.2:p.Phe383Leu
ENST00000522990.5:c.*631C>G ENSP00000430732.1:n.*631C>G
ENST00000523372.1:c.1150C>G ENSP00000430124.1:n.1150C>G
NM_000816.3:c.1029C>G NP_000807.2:p.Phe343Leu
NM_198903.2:c.1149C>G NP_944493.2:p.Phe383Leu
NM_198904.2:c.1029C>G NP_944494.1:p.Phe343Leu
NM_001375339.1:c.1020C>G NP_001362268.1:p.Phe340Leu
NM_001375340.1:c.923-2516C>G NP_001362269.1:n.923-2516C>G
NM_001375341.1:c.1026C>G NP_001362270.1:p.Phe342Leu
NM_001375342.1:c.1026C>G NP_001362271.1:p.Phe342Leu
NM_001375343.1:c.1149C>G NP_001362272.1:p.Phe383Leu
NM_001375344.1:c.1068C>G NP_001362273.1:p.Phe356Leu
NM_001375345.1:c.963C>G NP_001362274.1:p.Phe321Leu
NM_001375346.1:c.963C>G NP_001362275.1:p.Phe321Leu
NM_001375347.1:c.942C>G NP_001362276.1:p.Phe314Leu
NM_001375348.1:c.609C>G NP_001362277.1:p.Phe203Leu
NM_001375349.1:c.744C>G NP_001362278.1:p.Phe248Leu
NM_001375350.1:c.609C>G NP_001362279.1:p.Phe203Leu
NM_198904.3:c.1029C>G NP_944494.1:p.Phe343Leu
NM_198904.4:c.1029C>G MANE Select NP_944494.1:p.Phe343Leu