Canonical Allele Identifier: CA362183648

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580231T>C (hg19) ; chr5:g.162153225T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153225T>C , CM000667.2:g.162153225T>C	GRCh38
NC_000005.9:g.161580231T>C , CM000667.1:g.161580231T>C	GRCh37
NC_000005.8:g.161512809T>C	NCBI36
NG_009290.1:g.90584T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1286T>C
ENST00000361925.9:c.1381T>C	ENSP00000354651.5:p.Phe461Leu
ENST00000523372.2:c.1344T>C
ENST00000638253.1:n.539T>C
ENST00000638552.1:c.976T>C	ENSP00000491763.1:p.Phe326Leu
ENST00000638660.1:c.1000T>C	ENSP00000492869.1:p.Phe334Leu
ENST00000638772.1:c.*3882T>C	ENSP00000491557.1:n.*3882T>C
ENST00000638877.1:c.1162T>C
ENST00000639046.1:c.652T>C	ENSP00000492659.1:p.Phe218Leu
ENST00000639111.2:c.1261T>C	ENSP00000492125.2:p.Phe421Leu
ENST00000639213.2:c.1285T>C MANE Select	ENSP00000491909.2:p.Phe429Leu
ENST00000639278.1:c.1948T>C	ENSP00000491958.1:n.1948T>C
ENST00000639384.1:c.*1466T>C	ENSP00000491240.1:n.*1466T>C
ENST00000639424.1:c.*485T>C	ENSP00000491245.1:n.*485T>C
ENST00000639683.1:c.1219T>C	ENSP00000492581.1:p.Phe407Leu
ENST00000639975.1:c.1195T>C	ENSP00000492096.1:p.Phe399Leu
ENST00000640500.1:n.559T>C
ENST00000640739.1:n.6232T>C
ENST00000640910.1:c.723T>C
ENST00000640985.1:c.1198T>C	ENSP00000492293.1:p.Phe400Leu
ENST00000641017.1:c.1354T>C	ENSP00000493461.1:p.Phe452Leu
ENST00000356592.7:c.1285T>C	ENSP00000349000.3:p.Phe429Leu
ENST00000361925.8:c.1261T>C	ENSP00000354651.4:p.Phe421Leu
ENST00000414552.6:c.1405T>C	ENSP00000410732.2:p.Phe469Leu
ENST00000522990.5:c.*863T>C	ENSP00000430732.1:n.*863T>C
ENST00000523372.1:c.1382T>C	ENSP00000430124.1:n.1382T>C
NM_000816.3:c.1261T>C	NP_000807.2:p.Phe421Leu
NM_198903.2:c.1405T>C	NP_944493.2:p.Phe469Leu
NM_198904.2:c.1285T>C	NP_944494.1:p.Phe429Leu
NM_001375339.1:c.1276T>C	NP_001362268.1:p.Phe426Leu
NM_001375340.1:c.*119T>C	NP_001362269.1:n.*119T>C
NM_001375341.1:c.1282T>C	NP_001362270.1:p.Phe428Leu
NM_001375342.1:c.1258T>C	NP_001362271.1:p.Phe420Leu
NM_001375343.1:c.1381T>C	NP_001362272.1:p.Phe461Leu
NM_001375344.1:c.1324T>C	NP_001362273.1:p.Phe442Leu
NM_001375345.1:c.1195T>C	NP_001362274.1:p.Phe399Leu
NM_001375346.1:c.1219T>C	NP_001362275.1:p.Phe407Leu
NM_001375347.1:c.1198T>C	NP_001362276.1:p.Phe400Leu
NM_001375348.1:c.841T>C	NP_001362277.1:p.Phe281Leu
NM_001375349.1:c.976T>C	NP_001362278.1:p.Phe326Leu
NM_001375350.1:c.865T>C	NP_001362279.1:p.Phe289Leu
NM_198904.3:c.1285T>C	NP_944494.1:p.Phe429Leu
NM_198904.4:c.1285T>C MANE Select	NP_944494.1:p.Phe429Leu