Canonical Allele Identifier: CA362184154

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580348T>A (hg19) ; chr5:g.162153342T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153342T>A , CM000667.2:g.162153342T>A	GRCh38
NC_000005.9:g.161580348T>A , CM000667.1:g.161580348T>A	GRCh37
NC_000005.8:g.161512926T>A	NCBI36
NG_009290.1:g.90701T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1403T>A
ENST00000361925.9:c.1498T>A	ENSP00000354651.5:p.Tyr500Asn
ENST00000523372.2:c.1461T>A
ENST00000638253.1:n.656T>A
ENST00000638552.1:c.1093T>A	ENSP00000491763.1:p.Tyr365Asn
ENST00000638660.1:c.1117T>A	ENSP00000492869.1:p.Tyr373Asn
ENST00000638772.1:c.*3999T>A	ENSP00000491557.1:n.*3999T>A
ENST00000638877.1:c.1279T>A
ENST00000639046.1:c.769T>A	ENSP00000492659.1:p.Tyr257Asn
ENST00000639111.2:c.1378T>A	ENSP00000492125.2:p.Tyr460Asn
ENST00000639213.2:c.1402T>A MANE Select	ENSP00000491909.2:p.Tyr468Asn
ENST00000639278.1:c.2065T>A	ENSP00000491958.1:n.2065T>A
ENST00000639384.1:c.*1583T>A	ENSP00000491240.1:n.*1583T>A
ENST00000639424.1:c.*602T>A	ENSP00000491245.1:n.*602T>A
ENST00000639683.1:c.1336T>A	ENSP00000492581.1:p.Tyr446Asn
ENST00000639975.1:c.1312T>A	ENSP00000492096.1:p.Tyr438Asn
ENST00000640500.1:n.676T>A
ENST00000640739.1:n.6349T>A
ENST00000640910.1:c.840T>A
ENST00000640985.1:c.1315T>A	ENSP00000492293.1:p.Tyr439Asn
ENST00000641017.1:c.1471T>A	ENSP00000493461.1:p.Tyr491Asn
ENST00000356592.7:c.1402T>A	ENSP00000349000.3:p.Tyr468Asn
ENST00000361925.8:c.1378T>A	ENSP00000354651.4:p.Tyr460Asn
ENST00000414552.6:c.1522T>A	ENSP00000410732.2:p.Tyr508Asn
ENST00000522990.5:c.*980T>A	ENSP00000430732.1:n.*980T>A
ENST00000523372.1:c.1499T>A	ENSP00000430124.1:n.1499T>A
NM_000816.3:c.1378T>A	NP_000807.2:p.Tyr460Asn
NM_198903.2:c.1522T>A	NP_944493.2:p.Tyr508Asn
NM_198904.2:c.1402T>A	NP_944494.1:p.Tyr468Asn
NM_001375339.1:c.1393T>A	NP_001362268.1:p.Tyr465Asn
NM_001375340.1:c.*236T>A	NP_001362269.1:n.*236T>A
NM_001375341.1:c.1399T>A	NP_001362270.1:p.Tyr467Asn
NM_001375342.1:c.1375T>A	NP_001362271.1:p.Tyr459Asn
NM_001375343.1:c.1498T>A	NP_001362272.1:p.Tyr500Asn
NM_001375344.1:c.1441T>A	NP_001362273.1:p.Tyr481Asn
NM_001375345.1:c.1312T>A	NP_001362274.1:p.Tyr438Asn
NM_001375346.1:c.1336T>A	NP_001362275.1:p.Tyr446Asn
NM_001375347.1:c.1315T>A	NP_001362276.1:p.Tyr439Asn
NM_001375348.1:c.958T>A	NP_001362277.1:p.Tyr320Asn
NM_001375349.1:c.1093T>A	NP_001362278.1:p.Tyr365Asn
NM_001375350.1:c.982T>A	NP_001362279.1:p.Tyr328Asn
NM_198904.3:c.1402T>A	NP_944494.1:p.Tyr468Asn
NM_198904.4:c.1402T>A MANE Select	NP_944494.1:p.Tyr468Asn