Canonical Allele Identifier: CA447691830

Gene: GABRG2

Linked Data

• gnomAD v4: 5-162153233-T-C
• MyVariant Identifiers: chr5:g.161580239T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153233T>C , CM000667.2:g.162153233T>C	GRCh38
NC_000005.9:g.161580239T>C , CM000667.1:g.161580239T>C	GRCh37
NC_000005.8:g.161512817T>C	NCBI36
NG_009290.1:g.90592T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1294T>C
ENST00000361925.9:c.1389T>C	ENSP00000354651.5:p.Asp463=
ENST00000523372.2:c.1352T>C
ENST00000638253.1:n.547T>C
ENST00000638552.1:c.984T>C	ENSP00000491763.1:p.Asp328=
ENST00000638660.1:c.1008T>C	ENSP00000492869.1:p.Asp336=
ENST00000638772.1:c.*3890T>C	ENSP00000491557.1:n.*3890T>C
ENST00000638877.1:c.1170T>C
ENST00000639046.1:c.660T>C	ENSP00000492659.1:p.Asp220=
ENST00000639111.2:c.1269T>C	ENSP00000492125.2:p.Asp423=
ENST00000639213.2:c.1293T>C MANE Select	ENSP00000491909.2:p.Asp431=
ENST00000639278.1:c.1956T>C	ENSP00000491958.1:n.1956T>C
ENST00000639384.1:c.*1474T>C	ENSP00000491240.1:n.*1474T>C
ENST00000639424.1:c.*493T>C	ENSP00000491245.1:n.*493T>C
ENST00000639683.1:c.1227T>C	ENSP00000492581.1:p.Asp409=
ENST00000639975.1:c.1203T>C	ENSP00000492096.1:p.Asp401=
ENST00000640500.1:n.567T>C
ENST00000640739.1:n.6240T>C
ENST00000640910.1:c.731T>C
ENST00000640985.1:c.1206T>C	ENSP00000492293.1:p.Asp402=
ENST00000641017.1:c.1362T>C	ENSP00000493461.1:p.Asp454=
ENST00000356592.7:c.1293T>C	ENSP00000349000.3:p.Asp431=
ENST00000361925.8:c.1269T>C	ENSP00000354651.4:p.Asp423=
ENST00000414552.6:c.1413T>C	ENSP00000410732.2:p.Asp471=
ENST00000522990.5:c.*871T>C	ENSP00000430732.1:n.*871T>C
ENST00000523372.1:c.1390T>C	ENSP00000430124.1:n.1390T>C
NM_000816.3:c.1269T>C	NP_000807.2:p.Asp423=
NM_198903.2:c.1413T>C	NP_944493.2:p.Asp471=
NM_198904.2:c.1293T>C	NP_944494.1:p.Asp431=
NM_001375339.1:c.1284T>C	NP_001362268.1:p.Asp428=
NM_001375340.1:c.*127T>C	NP_001362269.1:n.*127T>C
NM_001375341.1:c.1290T>C	NP_001362270.1:p.Asp430=
NM_001375342.1:c.1266T>C	NP_001362271.1:p.Asp422=
NM_001375343.1:c.1389T>C	NP_001362272.1:p.Asp463=
NM_001375344.1:c.1332T>C	NP_001362273.1:p.Asp444=
NM_001375345.1:c.1203T>C	NP_001362274.1:p.Asp401=
NM_001375346.1:c.1227T>C	NP_001362275.1:p.Asp409=
NM_001375347.1:c.1206T>C	NP_001362276.1:p.Asp402=
NM_001375348.1:c.849T>C	NP_001362277.1:p.Asp283=
NM_001375349.1:c.984T>C	NP_001362278.1:p.Asp328=
NM_001375350.1:c.873T>C	NP_001362279.1:p.Asp291=
NM_198904.3:c.1293T>C	NP_944494.1:p.Asp431=
NM_198904.4:c.1293T>C MANE Select	NP_944494.1:p.Asp431=