Canonical Allele Identifier: CA3544989

Gene: GABRG2

Linked Data

• dbSNP Id: rs759598497
• ExAC: 5:161580252 G / A
• gnomAD v3: 5-162153246-G-A
• gnomAD v4: 5-162153246-G-A
• MyVariant Identifiers: chr5:g.161580252G>A (hg19) ; chr5:g.162153246G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153246G>A , CM000667.2:g.162153246G>A	GRCh38
NC_000005.9:g.161580252G>A , CM000667.1:g.161580252G>A	GRCh37
NC_000005.8:g.161512830G>A	NCBI36
NG_009290.1:g.90605G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1307G>A
ENST00000361925.9:c.1402G>A	ENSP00000354651.5:p.Ala468Thr
ENST00000523372.2:c.1365G>A
ENST00000638253.1:n.560G>A
ENST00000638552.1:c.997G>A	ENSP00000491763.1:p.Ala333Thr
ENST00000638660.1:c.1021G>A	ENSP00000492869.1:p.Ala341Thr
ENST00000638772.1:c.*3903G>A	ENSP00000491557.1:n.*3903G>A
ENST00000638877.1:c.1183G>A
ENST00000639046.1:c.673G>A	ENSP00000492659.1:p.Ala225Thr
ENST00000639111.2:c.1282G>A	ENSP00000492125.2:p.Ala428Thr
ENST00000639213.2:c.1306G>A MANE Select	ENSP00000491909.2:p.Ala436Thr
ENST00000639278.1:c.1969G>A	ENSP00000491958.1:n.1969G>A
ENST00000639384.1:c.*1487G>A	ENSP00000491240.1:n.*1487G>A
ENST00000639424.1:c.*506G>A	ENSP00000491245.1:n.*506G>A
ENST00000639683.1:c.1240G>A	ENSP00000492581.1:p.Ala414Thr
ENST00000639975.1:c.1216G>A	ENSP00000492096.1:p.Ala406Thr
ENST00000640500.1:n.580G>A
ENST00000640739.1:n.6253G>A
ENST00000640910.1:c.744G>A
ENST00000640985.1:c.1219G>A	ENSP00000492293.1:p.Ala407Thr
ENST00000641017.1:c.1375G>A	ENSP00000493461.1:p.Ala459Thr
ENST00000356592.7:c.1306G>A	ENSP00000349000.3:p.Ala436Thr
ENST00000361925.8:c.1282G>A	ENSP00000354651.4:p.Ala428Thr
ENST00000414552.6:c.1426G>A	ENSP00000410732.2:p.Ala476Thr
ENST00000522990.5:c.*884G>A	ENSP00000430732.1:n.*884G>A
ENST00000523372.1:c.1403G>A	ENSP00000430124.1:n.1403G>A
NM_000816.3:c.1282G>A	NP_000807.2:p.Ala428Thr
NM_198903.2:c.1426G>A	NP_944493.2:p.Ala476Thr
NM_198904.2:c.1306G>A	NP_944494.1:p.Ala436Thr
NM_001375339.1:c.1297G>A	NP_001362268.1:p.Ala433Thr
NM_001375340.1:c.*140G>A	NP_001362269.1:n.*140G>A
NM_001375341.1:c.1303G>A	NP_001362270.1:p.Ala435Thr
NM_001375342.1:c.1279G>A	NP_001362271.1:p.Ala427Thr
NM_001375343.1:c.1402G>A	NP_001362272.1:p.Ala468Thr
NM_001375344.1:c.1345G>A	NP_001362273.1:p.Ala449Thr
NM_001375345.1:c.1216G>A	NP_001362274.1:p.Ala406Thr
NM_001375346.1:c.1240G>A	NP_001362275.1:p.Ala414Thr
NM_001375347.1:c.1219G>A	NP_001362276.1:p.Ala407Thr
NM_001375348.1:c.862G>A	NP_001362277.1:p.Ala288Thr
NM_001375349.1:c.997G>A	NP_001362278.1:p.Ala333Thr
NM_001375350.1:c.886G>A	NP_001362279.1:p.Ala296Thr
NM_198904.3:c.1306G>A	NP_944494.1:p.Ala436Thr
NM_198904.4:c.1306G>A MANE Select	NP_944494.1:p.Ala436Thr