Canonical Allele Identifier: CA362184185

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580353G>T (hg19) ; chr5:g.162153347G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153347G>T , CM000667.2:g.162153347G>T	GRCh38
NC_000005.9:g.161580353G>T , CM000667.1:g.161580353G>T	GRCh37
NC_000005.8:g.161512931G>T	NCBI36
NG_009290.1:g.90706G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1408G>T
ENST00000361925.9:c.1503G>T	ENSP00000354651.5:p.Trp501Cys
ENST00000523372.2:c.1466G>T
ENST00000638253.1:n.661G>T
ENST00000638552.1:c.1098G>T	ENSP00000491763.1:p.Trp366Cys
ENST00000638660.1:c.1122G>T	ENSP00000492869.1:p.Trp374Cys
ENST00000638772.1:c.*4004G>T	ENSP00000491557.1:n.*4004G>T
ENST00000638877.1:c.1284G>T
ENST00000639046.1:c.774G>T	ENSP00000492659.1:p.Trp258Cys
ENST00000639111.2:c.1383G>T	ENSP00000492125.2:p.Trp461Cys
ENST00000639213.2:c.1407G>T MANE Select	ENSP00000491909.2:p.Trp469Cys
ENST00000639278.1:c.2070G>T	ENSP00000491958.1:n.2070G>T
ENST00000639384.1:c.*1588G>T	ENSP00000491240.1:n.*1588G>T
ENST00000639424.1:c.*607G>T	ENSP00000491245.1:n.*607G>T
ENST00000639683.1:c.1341G>T	ENSP00000492581.1:p.Trp447Cys
ENST00000639975.1:c.1317G>T	ENSP00000492096.1:p.Trp439Cys
ENST00000640500.1:n.681G>T
ENST00000640739.1:n.6354G>T
ENST00000640910.1:c.845G>T
ENST00000640985.1:c.1320G>T	ENSP00000492293.1:p.Trp440Cys
ENST00000641017.1:c.1476G>T	ENSP00000493461.1:p.Trp492Cys
ENST00000356592.7:c.1407G>T	ENSP00000349000.3:p.Trp469Cys
ENST00000361925.8:c.1383G>T	ENSP00000354651.4:p.Trp461Cys
ENST00000414552.6:c.1527G>T	ENSP00000410732.2:p.Trp509Cys
ENST00000522990.5:c.*985G>T	ENSP00000430732.1:n.*985G>T
ENST00000523372.1:c.1504G>T	ENSP00000430124.1:n.1504G>T
NM_000816.3:c.1383G>T	NP_000807.2:p.Trp461Cys
NM_198903.2:c.1527G>T	NP_944493.2:p.Trp509Cys
NM_198904.2:c.1407G>T	NP_944494.1:p.Trp469Cys
NM_001375339.1:c.1398G>T	NP_001362268.1:p.Trp466Cys
NM_001375340.1:c.*241G>T	NP_001362269.1:n.*241G>T
NM_001375341.1:c.1404G>T	NP_001362270.1:p.Trp468Cys
NM_001375342.1:c.1380G>T	NP_001362271.1:p.Trp460Cys
NM_001375343.1:c.1503G>T	NP_001362272.1:p.Trp501Cys
NM_001375344.1:c.1446G>T	NP_001362273.1:p.Trp482Cys
NM_001375345.1:c.1317G>T	NP_001362274.1:p.Trp439Cys
NM_001375346.1:c.1341G>T	NP_001362275.1:p.Trp447Cys
NM_001375347.1:c.1320G>T	NP_001362276.1:p.Trp440Cys
NM_001375348.1:c.963G>T	NP_001362277.1:p.Trp321Cys
NM_001375349.1:c.1098G>T	NP_001362278.1:p.Trp366Cys
NM_001375350.1:c.987G>T	NP_001362279.1:p.Trp329Cys
NM_198904.3:c.1407G>T	NP_944494.1:p.Trp469Cys
NM_198904.4:c.1407G>T MANE Select	NP_944494.1:p.Trp469Cys