Canonical Allele Identifier: CA362184253

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580366T>C (hg19) ; chr5:g.162153360T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153360T>C , CM000667.2:g.162153360T>C	GRCh38
NC_000005.9:g.161580366T>C , CM000667.1:g.161580366T>C	GRCh37
NC_000005.8:g.161512944T>C	NCBI36
NG_009290.1:g.90719T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1421T>C
ENST00000361925.9:c.1516T>C	ENSP00000354651.5:p.Tyr506His
ENST00000523372.2:c.1479T>C
ENST00000638253.1:n.674T>C
ENST00000638552.1:c.1111T>C	ENSP00000491763.1:p.Tyr371His
ENST00000638660.1:c.1135T>C	ENSP00000492869.1:p.Tyr379His
ENST00000638772.1:c.*4017T>C	ENSP00000491557.1:n.*4017T>C
ENST00000638877.1:c.1297T>C
ENST00000639046.1:c.787T>C	ENSP00000492659.1:p.Tyr263His
ENST00000639111.2:c.1396T>C	ENSP00000492125.2:p.Tyr466His
ENST00000639213.2:c.1420T>C MANE Select	ENSP00000491909.2:p.Tyr474His
ENST00000639278.1:c.2083T>C	ENSP00000491958.1:n.2083T>C
ENST00000639384.1:c.*1601T>C	ENSP00000491240.1:n.*1601T>C
ENST00000639424.1:c.*620T>C	ENSP00000491245.1:n.*620T>C
ENST00000639683.1:c.1354T>C	ENSP00000492581.1:p.Tyr452His
ENST00000639975.1:c.1330T>C	ENSP00000492096.1:p.Tyr444His
ENST00000640500.1:n.694T>C
ENST00000640739.1:n.6367T>C
ENST00000640910.1:c.858T>C
ENST00000640985.1:c.1333T>C	ENSP00000492293.1:p.Tyr445His
ENST00000641017.1:c.1489T>C	ENSP00000493461.1:p.Tyr497His
ENST00000356592.7:c.1420T>C	ENSP00000349000.3:p.Tyr474His
ENST00000361925.8:c.1396T>C	ENSP00000354651.4:p.Tyr466His
ENST00000414552.6:c.1540T>C	ENSP00000410732.2:p.Tyr514His
ENST00000522990.5:c.*998T>C	ENSP00000430732.1:n.*998T>C
ENST00000523372.1:c.1517T>C	ENSP00000430124.1:n.1517T>C
NM_000816.3:c.1396T>C	NP_000807.2:p.Tyr466His
NM_198903.2:c.1540T>C	NP_944493.2:p.Tyr514His
NM_198904.2:c.1420T>C	NP_944494.1:p.Tyr474His
NM_001375339.1:c.1411T>C	NP_001362268.1:p.Tyr471His
NM_001375340.1:c.*254T>C	NP_001362269.1:n.*254T>C
NM_001375341.1:c.1417T>C	NP_001362270.1:p.Tyr473His
NM_001375342.1:c.1393T>C	NP_001362271.1:p.Tyr465His
NM_001375343.1:c.1516T>C	NP_001362272.1:p.Tyr506His
NM_001375344.1:c.1459T>C	NP_001362273.1:p.Tyr487His
NM_001375345.1:c.1330T>C	NP_001362274.1:p.Tyr444His
NM_001375346.1:c.1354T>C	NP_001362275.1:p.Tyr452His
NM_001375347.1:c.1333T>C	NP_001362276.1:p.Tyr445His
NM_001375348.1:c.976T>C	NP_001362277.1:p.Tyr326His
NM_001375349.1:c.1111T>C	NP_001362278.1:p.Tyr371His
NM_001375350.1:c.1000T>C	NP_001362279.1:p.Tyr334His
NM_198904.3:c.1420T>C	NP_944494.1:p.Tyr474His
NM_198904.4:c.1420T>C MANE Select	NP_944494.1:p.Tyr474His