Canonical Allele Identifier: CA362183201

Gene: GABRG2

Linked Data

• gnomAD v4: 5-162153105-G-T
• MyVariant Identifiers: chr5:g.161580111G>T (hg19) ; chr5:g.162153105G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153105G>T , CM000667.2:g.162153105G>T	GRCh38
NC_000005.9:g.161580111G>T , CM000667.1:g.161580111G>T	GRCh37
NC_000005.8:g.161512689G>T	NCBI36
NG_009290.1:g.90464G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356592.8:c.1166G>T
ENST00000361925.9:c.1261G>T	ENSP00000354651.5:p.Asp421Tyr
ENST00000523372.2:c.1224G>T
ENST00000638253.1:n.419G>T
ENST00000638552.1:c.856G>T	ENSP00000491763.1:p.Asp286Tyr
ENST00000638660.1:c.880G>T	ENSP00000492869.1:p.Asp294Tyr
ENST00000638772.1:c.*3762G>T	ENSP00000491557.1:n.*3762G>T
ENST00000638877.1:c.1042G>T
ENST00000639046.1:c.532G>T	ENSP00000492659.1:p.Asp178Tyr
ENST00000639111.2:c.1141G>T	ENSP00000492125.2:p.Asp381Tyr
ENST00000639213.2:c.1165G>T MANE Select	ENSP00000491909.2:p.Asp389Tyr
ENST00000639278.1:c.1828G>T	ENSP00000491958.1:n.1828G>T
ENST00000639384.1:c.*1346G>T	ENSP00000491240.1:n.*1346G>T
ENST00000639424.1:c.*365G>T	ENSP00000491245.1:n.*365G>T
ENST00000639683.1:c.1099G>T	ENSP00000492581.1:p.Asp367Tyr
ENST00000639975.1:c.1075G>T	ENSP00000492096.1:p.Asp359Tyr
ENST00000640500.1:n.439G>T
ENST00000640739.1:n.6112G>T
ENST00000640910.1:c.603G>T
ENST00000640985.1:c.1078G>T	ENSP00000492293.1:p.Asp360Tyr
ENST00000641017.1:c.1234G>T	ENSP00000493461.1:p.Asp412Tyr
ENST00000356592.7:c.1165G>T	ENSP00000349000.3:p.Asp389Tyr
ENST00000361925.8:c.1141G>T	ENSP00000354651.4:p.Asp381Tyr
ENST00000414552.6:c.1285G>T	ENSP00000410732.2:p.Asp429Tyr
ENST00000522990.5:c.*743G>T	ENSP00000430732.1:n.*743G>T
ENST00000523372.1:c.1262G>T	ENSP00000430124.1:n.1262G>T
NM_000816.3:c.1141G>T	NP_000807.2:p.Asp381Tyr
NM_198903.2:c.1285G>T	NP_944493.2:p.Asp429Tyr
NM_198904.2:c.1165G>T	NP_944494.1:p.Asp389Tyr
NM_001375339.1:c.1156G>T	NP_001362268.1:p.Asp386Tyr
NM_001375340.1:c.959G>T	NP_001362269.1:p.Ter320Leu
NM_001375341.1:c.1162G>T	NP_001362270.1:p.Asp388Tyr
NM_001375342.1:c.1138G>T	NP_001362271.1:p.Asp380Tyr
NM_001375343.1:c.1261G>T	NP_001362272.1:p.Asp421Tyr
NM_001375344.1:c.1204G>T	NP_001362273.1:p.Asp402Tyr
NM_001375345.1:c.1075G>T	NP_001362274.1:p.Asp359Tyr
NM_001375346.1:c.1099G>T	NP_001362275.1:p.Asp367Tyr
NM_001375347.1:c.1078G>T	NP_001362276.1:p.Asp360Tyr
NM_001375348.1:c.721G>T	NP_001362277.1:p.Asp241Tyr
NM_001375349.1:c.856G>T	NP_001362278.1:p.Asp286Tyr
NM_001375350.1:c.745G>T	NP_001362279.1:p.Asp249Tyr
NM_198904.3:c.1165G>T	NP_944494.1:p.Asp389Tyr
NM_198904.4:c.1165G>T MANE Select	NP_944494.1:p.Asp389Tyr