Canonical Allele Identifier: CA3544864

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 1121626
• ClinVar RCV Id: RCV001451937
• dbSNP Id: rs377638785
• ExAC: 5:161576190 A / T
• gnomAD v2: 5-161576190-A-T
• gnomAD v3: 5-162149184-A-T
• gnomAD v4: 5-162149184-A-T
• MyVariant Identifiers: chr5:g.161576190A>T (hg19) ; chr5:g.162149184A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149184A>T , CM000667.2:g.162149184A>T	GRCh38
NC_000005.9:g.161576190A>T , CM000667.1:g.161576190A>T	GRCh37
NC_000005.8:g.161508768A>T	NCBI36
NG_009290.1:g.86543A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1000A>T
ENST00000361925.9:c.1119A>T	ENSP00000354651.5:p.Thr373=
ENST00000523372.2:c.1082A>T
ENST00000638253.1:n.253A>T
ENST00000638552.1:c.714A>T	ENSP00000491763.1:p.Thr238=
ENST00000638660.1:c.714A>T	ENSP00000492869.1:p.Thr238=
ENST00000638772.1:c.999A>T	ENSP00000491557.1:p.Thr333=
ENST00000638877.1:c.876A>T
ENST00000639046.1:c.390A>T	ENSP00000492659.1:p.Thr130=
ENST00000639111.2:c.999A>T	ENSP00000492125.2:p.Thr333=
ENST00000639213.2:c.999A>T MANE Select	ENSP00000491909.2:p.Thr333=
ENST00000639278.1:c.927A>T	ENSP00000491958.1:p.Thr309=
ENST00000639384.1:c.999A>T	ENSP00000491240.1:p.Thr333=
ENST00000639424.1:c.*199A>T	ENSP00000491245.1:n.*199A>T
ENST00000639683.1:c.933A>T	ENSP00000492581.1:p.Thr311=
ENST00000639975.1:c.933A>T	ENSP00000492096.1:p.Thr311=
ENST00000640500.1:n.297A>T
ENST00000640574.1:c.714A>T	ENSP00000491582.1:p.Thr238=
ENST00000640739.1:n.3530A>T
ENST00000640910.1:c.437A>T
ENST00000640985.1:c.912A>T	ENSP00000492293.1:p.Thr304=
ENST00000641017.1:c.999A>T	ENSP00000493461.1:p.Thr333=
ENST00000356592.7:c.999A>T	ENSP00000349000.3:p.Thr333=
ENST00000361925.8:c.999A>T	ENSP00000354651.4:p.Thr333=
ENST00000414552.6:c.1119A>T	ENSP00000410732.2:p.Thr373=
ENST00000522990.5:c.*601A>T	ENSP00000430732.1:n.*601A>T
ENST00000523372.1:c.1120A>T	ENSP00000430124.1:n.1120A>T
NM_000816.3:c.999A>T	NP_000807.2:p.Thr333=
NM_198903.2:c.1119A>T	NP_944493.2:p.Thr373=
NM_198904.2:c.999A>T	NP_944494.1:p.Thr333=
NM_001375339.1:c.990A>T	NP_001362268.1:p.Thr330=
NM_001375340.1:c.923-2546A>T	NP_001362269.1:n.923-2546A>T
NM_001375341.1:c.996A>T	NP_001362270.1:p.Thr332=
NM_001375342.1:c.996A>T	NP_001362271.1:p.Thr332=
NM_001375343.1:c.1119A>T	NP_001362272.1:p.Thr373=
NM_001375344.1:c.1038A>T	NP_001362273.1:p.Thr346=
NM_001375345.1:c.933A>T	NP_001362274.1:p.Thr311=
NM_001375346.1:c.933A>T	NP_001362275.1:p.Thr311=
NM_001375347.1:c.912A>T	NP_001362276.1:p.Thr304=
NM_001375348.1:c.579A>T	NP_001362277.1:p.Thr193=
NM_001375349.1:c.714A>T	NP_001362278.1:p.Thr238=
NM_001375350.1:c.579A>T	NP_001362279.1:p.Thr193=
NM_198904.3:c.999A>T	NP_944494.1:p.Thr333=
NM_198904.4:c.999A>T MANE Select	NP_944494.1:p.Thr333=