Canonical Allele Identifier: CA362182322
Gene: GABRG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162149120T>G , CM000667.2:g.162149120T>G GRCh38
NC_000005.9:g.161576126T>G , CM000667.1:g.161576126T>G GRCh37
NC_000005.8:g.161508704T>G NCBI36
NG_009290.1:g.86479T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356592.8:c.936T>G
ENST00000361925.9:c.1055T>G ENSP00000354651.5:p.Val352Gly
ENST00000522053.2:n.826T>G
ENST00000523372.2:c.1018T>G
ENST00000638253.1:n.189T>G
ENST00000638552.1:c.650T>G ENSP00000491763.1:p.Val217Gly
ENST00000638660.1:c.650T>G ENSP00000492869.1:p.Val217Gly
ENST00000638772.1:c.935T>G ENSP00000491557.1:p.Val312Gly
ENST00000638877.1:c.812T>G
ENST00000639046.1:c.326T>G ENSP00000492659.1:p.Val109Gly
ENST00000639111.2:c.935T>G ENSP00000492125.2:p.Val312Gly
ENST00000639213.2:c.935T>G MANE Select ENSP00000491909.2:p.Val312Gly
ENST00000639278.1:c.863T>G ENSP00000491958.1:p.Val288Gly
ENST00000639384.1:c.935T>G ENSP00000491240.1:p.Val312Gly
ENST00000639424.1:c.*135T>G ENSP00000491245.1:n.*135T>G
ENST00000639683.1:c.869T>G ENSP00000492581.1:p.Val290Gly
ENST00000639975.1:c.869T>G ENSP00000492096.1:p.Val290Gly
ENST00000640500.1:n.233T>G
ENST00000640574.1:c.650T>G ENSP00000491582.1:p.Val217Gly
ENST00000640739.1:n.3466T>G
ENST00000640910.1:c.373T>G
ENST00000640985.1:c.848T>G ENSP00000492293.1:p.Val283Gly
ENST00000641017.1:c.935T>G ENSP00000493461.1:p.Val312Gly
ENST00000356592.7:c.935T>G ENSP00000349000.3:p.Val312Gly
ENST00000361925.8:c.935T>G ENSP00000354651.4:p.Val312Gly
ENST00000414552.6:c.1055T>G ENSP00000410732.2:p.Val352Gly
ENST00000522053.1:c.650T>G ENSP00000430182.1:p.Val217Gly
ENST00000522990.5:c.*537T>G ENSP00000430732.1:n.*537T>G
ENST00000523372.1:c.1056T>G ENSP00000430124.1:n.1056T>G
NM_000816.3:c.935T>G NP_000807.2:p.Val312Gly
NM_198903.2:c.1055T>G NP_944493.2:p.Val352Gly
NM_198904.2:c.935T>G NP_944494.1:p.Val312Gly
NM_001375339.1:c.926T>G NP_001362268.1:p.Val309Gly
NM_001375340.1:c.923-2610T>G NP_001362269.1:n.923-2610T>G
NM_001375341.1:c.932T>G NP_001362270.1:p.Val311Gly
NM_001375342.1:c.932T>G NP_001362271.1:p.Val311Gly
NM_001375343.1:c.1055T>G NP_001362272.1:p.Val352Gly
NM_001375344.1:c.974T>G NP_001362273.1:p.Val325Gly
NM_001375345.1:c.869T>G NP_001362274.1:p.Val290Gly
NM_001375346.1:c.869T>G NP_001362275.1:p.Val290Gly
NM_001375347.1:c.848T>G NP_001362276.1:p.Val283Gly
NM_001375348.1:c.515T>G NP_001362277.1:p.Val172Gly
NM_001375349.1:c.650T>G NP_001362278.1:p.Val217Gly
NM_001375350.1:c.515T>G NP_001362279.1:p.Val172Gly
NM_198904.3:c.935T>G NP_944494.1:p.Val312Gly
NM_198904.4:c.935T>G MANE Select NP_944494.1:p.Val312Gly