Canonical Allele Identifier: CA314719

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 205544
• ClinVar RCV Id: RCV000622606 ; RCV001222940
• dbSNP Id: rs770506471
• gnomAD v4: 5-162101282-T-C
• MyVariant Identifiers: chr5:g.161528288T>C (hg19) ; chr5:g.162101282T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162101282T>C , CM000667.2:g.162101282T>C	GRCh38
NC_000005.9:g.161528288T>C , CM000667.1:g.161528288T>C	GRCh37
NC_000005.8:g.161460866T>C	NCBI36
NG_009290.1:g.38641T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.558T>C
ENST00000361925.9:c.596T>C	ENSP00000354651.5:p.Met199Thr
ENST00000522053.2:n.487T>C
ENST00000523372.2:c.679T>C
ENST00000638552.1:c.311T>C	ENSP00000491763.1:p.Met104Thr
ENST00000638660.1:c.311T>C	ENSP00000492869.1:p.Met104Thr
ENST00000638772.1:c.596T>C	ENSP00000491557.1:p.Met199Thr
ENST00000638782.1:n.658T>C
ENST00000638877.1:c.473T>C
ENST00000639046.1:c.23-2607T>C	ENSP00000492659.1:n.23-2607T>C
ENST00000639111.2:c.596T>C	ENSP00000492125.2:p.Met199Thr
ENST00000639213.2:c.596T>C MANE Select	ENSP00000491909.2:p.Met199Thr
ENST00000639278.1:c.524T>C	ENSP00000491958.1:p.Met175Thr
ENST00000639384.1:c.596T>C	ENSP00000491240.1:p.Met199Thr
ENST00000639424.1:c.107+33176T>C	ENSP00000491245.1:n.107+33176T>C
ENST00000639683.1:c.530T>C	ENSP00000492581.1:p.Met177Thr
ENST00000639975.1:c.530T>C	ENSP00000492096.1:p.Met177Thr
ENST00000640574.1:c.311T>C	ENSP00000491582.1:p.Met104Thr
ENST00000640739.1:n.556T>C
ENST00000640910.1:c.70-2607T>C
ENST00000640985.1:c.509T>C	ENSP00000492293.1:p.Met170Thr
ENST00000641017.1:c.596T>C	ENSP00000493461.1:p.Met199Thr
ENST00000356592.7:c.596T>C	ENSP00000349000.3:p.Met199Thr
ENST00000361925.8:c.596T>C	ENSP00000354651.4:p.Met199Thr
ENST00000414552.6:c.596T>C	ENSP00000410732.2:p.Met199Thr
ENST00000522053.1:c.311T>C	ENSP00000430182.1:p.Met104Thr
ENST00000522990.5:c.*198T>C	ENSP00000430732.1:n.*198T>C
ENST00000523372.1:c.717T>C	ENSP00000430124.1:n.717T>C
NM_000816.3:c.596T>C	NP_000807.2:p.Met199Thr
NM_198903.2:c.596T>C	NP_944493.2:p.Met199Thr
NM_198904.2:c.596T>C	NP_944494.1:p.Met199Thr
NM_001375339.1:c.587T>C	NP_001362268.1:p.Met196Thr
NM_001375340.1:c.596T>C	NP_001362269.1:p.Met199Thr
NM_001375341.1:c.596T>C	NP_001362270.1:p.Met199Thr
NM_001375342.1:c.596T>C	NP_001362271.1:p.Met199Thr
NM_001375343.1:c.596T>C	NP_001362272.1:p.Met199Thr
NM_001375344.1:c.596T>C	NP_001362273.1:p.Met199Thr
NM_001375345.1:c.530T>C	NP_001362274.1:p.Met177Thr
NM_001375346.1:c.530T>C	NP_001362275.1:p.Met177Thr
NM_001375347.1:c.509T>C	NP_001362276.1:p.Met170Thr
NM_001375348.1:c.176T>C	NP_001362277.1:p.Met59Thr
NM_001375349.1:c.311T>C	NP_001362278.1:p.Met104Thr
NM_001375350.1:c.176T>C	NP_001362279.1:p.Met59Thr
NM_198904.3:c.596T>C	NP_944494.1:p.Met199Thr
NM_198904.4:c.596T>C MANE Select	NP_944494.1:p.Met199Thr