Canonical Allele Identifier: CA362184163

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580349A>C (hg19) ; chr5:g.162153343A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153343A>C , CM000667.2:g.162153343A>C	GRCh38
NC_000005.9:g.161580349A>C , CM000667.1:g.161580349A>C	GRCh37
NC_000005.8:g.161512927A>C	NCBI36
NG_009290.1:g.90702A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1404A>C
ENST00000361925.9:c.1499A>C	ENSP00000354651.5:p.Tyr500Ser
ENST00000523372.2:c.1462A>C
ENST00000638253.1:n.657A>C
ENST00000638552.1:c.1094A>C	ENSP00000491763.1:p.Tyr365Ser
ENST00000638660.1:c.1118A>C	ENSP00000492869.1:p.Tyr373Ser
ENST00000638772.1:c.*4000A>C	ENSP00000491557.1:n.*4000A>C
ENST00000638877.1:c.1280A>C
ENST00000639046.1:c.770A>C	ENSP00000492659.1:p.Tyr257Ser
ENST00000639111.2:c.1379A>C	ENSP00000492125.2:p.Tyr460Ser
ENST00000639213.2:c.1403A>C MANE Select	ENSP00000491909.2:p.Tyr468Ser
ENST00000639278.1:c.2066A>C	ENSP00000491958.1:n.2066A>C
ENST00000639384.1:c.*1584A>C	ENSP00000491240.1:n.*1584A>C
ENST00000639424.1:c.*603A>C	ENSP00000491245.1:n.*603A>C
ENST00000639683.1:c.1337A>C	ENSP00000492581.1:p.Tyr446Ser
ENST00000639975.1:c.1313A>C	ENSP00000492096.1:p.Tyr438Ser
ENST00000640500.1:n.677A>C
ENST00000640739.1:n.6350A>C
ENST00000640910.1:c.841A>C
ENST00000640985.1:c.1316A>C	ENSP00000492293.1:p.Tyr439Ser
ENST00000641017.1:c.1472A>C	ENSP00000493461.1:p.Tyr491Ser
ENST00000356592.7:c.1403A>C	ENSP00000349000.3:p.Tyr468Ser
ENST00000361925.8:c.1379A>C	ENSP00000354651.4:p.Tyr460Ser
ENST00000414552.6:c.1523A>C	ENSP00000410732.2:p.Tyr508Ser
ENST00000522990.5:c.*981A>C	ENSP00000430732.1:n.*981A>C
ENST00000523372.1:c.1500A>C	ENSP00000430124.1:n.1500A>C
NM_000816.3:c.1379A>C	NP_000807.2:p.Tyr460Ser
NM_198903.2:c.1523A>C	NP_944493.2:p.Tyr508Ser
NM_198904.2:c.1403A>C	NP_944494.1:p.Tyr468Ser
NM_001375339.1:c.1394A>C	NP_001362268.1:p.Tyr465Ser
NM_001375340.1:c.*237A>C	NP_001362269.1:n.*237A>C
NM_001375341.1:c.1400A>C	NP_001362270.1:p.Tyr467Ser
NM_001375342.1:c.1376A>C	NP_001362271.1:p.Tyr459Ser
NM_001375343.1:c.1499A>C	NP_001362272.1:p.Tyr500Ser
NM_001375344.1:c.1442A>C	NP_001362273.1:p.Tyr481Ser
NM_001375345.1:c.1313A>C	NP_001362274.1:p.Tyr438Ser
NM_001375346.1:c.1337A>C	NP_001362275.1:p.Tyr446Ser
NM_001375347.1:c.1316A>C	NP_001362276.1:p.Tyr439Ser
NM_001375348.1:c.959A>C	NP_001362277.1:p.Tyr320Ser
NM_001375349.1:c.1094A>C	NP_001362278.1:p.Tyr365Ser
NM_001375350.1:c.983A>C	NP_001362279.1:p.Tyr328Ser
NM_198904.3:c.1403A>C	NP_944494.1:p.Tyr468Ser
NM_198904.4:c.1403A>C MANE Select	NP_944494.1:p.Tyr468Ser