Canonical Allele Identifier: CA362182490

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161576206G>C (hg19) ; chr5:g.162149200G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149200G>C , CM000667.2:g.162149200G>C	GRCh38
NC_000005.9:g.161576206G>C , CM000667.1:g.161576206G>C	GRCh37
NC_000005.8:g.161508784G>C	NCBI36
NG_009290.1:g.86559G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1016G>C
ENST00000361925.9:c.1135G>C	ENSP00000354651.5:p.Val379Leu
ENST00000523372.2:c.1098G>C
ENST00000638253.1:n.269G>C
ENST00000638552.1:c.730G>C	ENSP00000491763.1:p.Val244Leu
ENST00000638660.1:c.730G>C	ENSP00000492869.1:p.Val244Leu
ENST00000638772.1:c.1015G>C	ENSP00000491557.1:p.Val339Leu
ENST00000638877.1:c.892G>C
ENST00000639046.1:c.406G>C	ENSP00000492659.1:p.Val136Leu
ENST00000639111.2:c.1015G>C	ENSP00000492125.2:p.Val339Leu
ENST00000639213.2:c.1015G>C MANE Select	ENSP00000491909.2:p.Val339Leu
ENST00000639278.1:c.943G>C	ENSP00000491958.1:p.Val315Leu
ENST00000639384.1:c.1015G>C	ENSP00000491240.1:p.Val339Leu
ENST00000639424.1:c.*215G>C	ENSP00000491245.1:n.*215G>C
ENST00000639683.1:c.949G>C	ENSP00000492581.1:p.Val317Leu
ENST00000639975.1:c.949G>C	ENSP00000492096.1:p.Val317Leu
ENST00000640500.1:n.313G>C
ENST00000640574.1:c.730G>C	ENSP00000491582.1:p.Val244Leu
ENST00000640739.1:n.3546G>C
ENST00000640910.1:c.453G>C
ENST00000640985.1:c.928G>C	ENSP00000492293.1:p.Val310Leu
ENST00000641017.1:c.1015G>C	ENSP00000493461.1:p.Val339Leu
ENST00000356592.7:c.1015G>C	ENSP00000349000.3:p.Val339Leu
ENST00000361925.8:c.1015G>C	ENSP00000354651.4:p.Val339Leu
ENST00000414552.6:c.1135G>C	ENSP00000410732.2:p.Val379Leu
ENST00000522990.5:c.*617G>C	ENSP00000430732.1:n.*617G>C
ENST00000523372.1:c.1136G>C	ENSP00000430124.1:n.1136G>C
NM_000816.3:c.1015G>C	NP_000807.2:p.Val339Leu
NM_198903.2:c.1135G>C	NP_944493.2:p.Val379Leu
NM_198904.2:c.1015G>C	NP_944494.1:p.Val339Leu
NM_001375339.1:c.1006G>C	NP_001362268.1:p.Val336Leu
NM_001375340.1:c.923-2530G>C	NP_001362269.1:n.923-2530G>C
NM_001375341.1:c.1012G>C	NP_001362270.1:p.Val338Leu
NM_001375342.1:c.1012G>C	NP_001362271.1:p.Val338Leu
NM_001375343.1:c.1135G>C	NP_001362272.1:p.Val379Leu
NM_001375344.1:c.1054G>C	NP_001362273.1:p.Val352Leu
NM_001375345.1:c.949G>C	NP_001362274.1:p.Val317Leu
NM_001375346.1:c.949G>C	NP_001362275.1:p.Val317Leu
NM_001375347.1:c.928G>C	NP_001362276.1:p.Val310Leu
NM_001375348.1:c.595G>C	NP_001362277.1:p.Val199Leu
NM_001375349.1:c.730G>C	NP_001362278.1:p.Val244Leu
NM_001375350.1:c.595G>C	NP_001362279.1:p.Val199Leu
NM_198904.3:c.1015G>C	NP_944494.1:p.Val339Leu
NM_198904.4:c.1015G>C MANE Select	NP_944494.1:p.Val339Leu