Canonical Allele Identifier: CA362183869

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580285G>T (hg19) ; chr5:g.162153279G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153279G>T , CM000667.2:g.162153279G>T	GRCh38
NC_000005.9:g.161580285G>T , CM000667.1:g.161580285G>T	GRCh37
NC_000005.8:g.161512863G>T	NCBI36
NG_009290.1:g.90638G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1340G>T
ENST00000361925.9:c.1435G>T	ENSP00000354651.5:p.Ala479Ser
ENST00000523372.2:c.1398G>T
ENST00000638253.1:n.593G>T
ENST00000638552.1:c.1030G>T	ENSP00000491763.1:p.Ala344Ser
ENST00000638660.1:c.1054G>T	ENSP00000492869.1:p.Ala352Ser
ENST00000638772.1:c.*3936G>T	ENSP00000491557.1:n.*3936G>T
ENST00000638877.1:c.1216G>T
ENST00000639046.1:c.706G>T	ENSP00000492659.1:p.Ala236Ser
ENST00000639111.2:c.1315G>T	ENSP00000492125.2:p.Ala439Ser
ENST00000639213.2:c.1339G>T MANE Select	ENSP00000491909.2:p.Ala447Ser
ENST00000639278.1:c.2002G>T	ENSP00000491958.1:n.2002G>T
ENST00000639384.1:c.*1520G>T	ENSP00000491240.1:n.*1520G>T
ENST00000639424.1:c.*539G>T	ENSP00000491245.1:n.*539G>T
ENST00000639683.1:c.1273G>T	ENSP00000492581.1:p.Ala425Ser
ENST00000639975.1:c.1249G>T	ENSP00000492096.1:p.Ala417Ser
ENST00000640500.1:n.613G>T
ENST00000640739.1:n.6286G>T
ENST00000640910.1:c.777G>T
ENST00000640985.1:c.1252G>T	ENSP00000492293.1:p.Ala418Ser
ENST00000641017.1:c.1408G>T	ENSP00000493461.1:p.Ala470Ser
ENST00000356592.7:c.1339G>T	ENSP00000349000.3:p.Ala447Ser
ENST00000361925.8:c.1315G>T	ENSP00000354651.4:p.Ala439Ser
ENST00000414552.6:c.1459G>T	ENSP00000410732.2:p.Ala487Ser
ENST00000522990.5:c.*917G>T	ENSP00000430732.1:n.*917G>T
ENST00000523372.1:c.1436G>T	ENSP00000430124.1:n.1436G>T
NM_000816.3:c.1315G>T	NP_000807.2:p.Ala439Ser
NM_198903.2:c.1459G>T	NP_944493.2:p.Ala487Ser
NM_198904.2:c.1339G>T	NP_944494.1:p.Ala447Ser
NM_001375339.1:c.1330G>T	NP_001362268.1:p.Ala444Ser
NM_001375340.1:c.*173G>T	NP_001362269.1:n.*173G>T
NM_001375341.1:c.1336G>T	NP_001362270.1:p.Ala446Ser
NM_001375342.1:c.1312G>T	NP_001362271.1:p.Ala438Ser
NM_001375343.1:c.1435G>T	NP_001362272.1:p.Ala479Ser
NM_001375344.1:c.1378G>T	NP_001362273.1:p.Ala460Ser
NM_001375345.1:c.1249G>T	NP_001362274.1:p.Ala417Ser
NM_001375346.1:c.1273G>T	NP_001362275.1:p.Ala425Ser
NM_001375347.1:c.1252G>T	NP_001362276.1:p.Ala418Ser
NM_001375348.1:c.895G>T	NP_001362277.1:p.Ala299Ser
NM_001375349.1:c.1030G>T	NP_001362278.1:p.Ala344Ser
NM_001375350.1:c.919G>T	NP_001362279.1:p.Ala307Ser
NM_198904.3:c.1339G>T	NP_944494.1:p.Ala447Ser
NM_198904.4:c.1339G>T MANE Select	NP_944494.1:p.Ala447Ser