Canonical Allele Identifier: CA362183929

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580297T>C (hg19) ; chr5:g.162153291T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153291T>C , CM000667.2:g.162153291T>C	GRCh38
NC_000005.9:g.161580297T>C , CM000667.1:g.161580297T>C	GRCh37
NC_000005.8:g.161512875T>C	NCBI36
NG_009290.1:g.90650T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1352T>C
ENST00000361925.9:c.1447T>C	ENSP00000354651.5:p.Ser483Pro
ENST00000523372.2:c.1410T>C
ENST00000638253.1:n.605T>C
ENST00000638552.1:c.1042T>C	ENSP00000491763.1:p.Ser348Pro
ENST00000638660.1:c.1066T>C	ENSP00000492869.1:p.Ser356Pro
ENST00000638772.1:c.*3948T>C	ENSP00000491557.1:n.*3948T>C
ENST00000638877.1:c.1228T>C
ENST00000639046.1:c.718T>C	ENSP00000492659.1:p.Ser240Pro
ENST00000639111.2:c.1327T>C	ENSP00000492125.2:p.Ser443Pro
ENST00000639213.2:c.1351T>C MANE Select	ENSP00000491909.2:p.Ser451Pro
ENST00000639278.1:c.2014T>C	ENSP00000491958.1:n.2014T>C
ENST00000639384.1:c.*1532T>C	ENSP00000491240.1:n.*1532T>C
ENST00000639424.1:c.*551T>C	ENSP00000491245.1:n.*551T>C
ENST00000639683.1:c.1285T>C	ENSP00000492581.1:p.Ser429Pro
ENST00000639975.1:c.1261T>C	ENSP00000492096.1:p.Ser421Pro
ENST00000640500.1:n.625T>C
ENST00000640739.1:n.6298T>C
ENST00000640910.1:c.789T>C
ENST00000640985.1:c.1264T>C	ENSP00000492293.1:p.Ser422Pro
ENST00000641017.1:c.1420T>C	ENSP00000493461.1:p.Ser474Pro
ENST00000356592.7:c.1351T>C	ENSP00000349000.3:p.Ser451Pro
ENST00000361925.8:c.1327T>C	ENSP00000354651.4:p.Ser443Pro
ENST00000414552.6:c.1471T>C	ENSP00000410732.2:p.Ser491Pro
ENST00000522990.5:c.*929T>C	ENSP00000430732.1:n.*929T>C
ENST00000523372.1:c.1448T>C	ENSP00000430124.1:n.1448T>C
NM_000816.3:c.1327T>C	NP_000807.2:p.Ser443Pro
NM_198903.2:c.1471T>C	NP_944493.2:p.Ser491Pro
NM_198904.2:c.1351T>C	NP_944494.1:p.Ser451Pro
NM_001375339.1:c.1342T>C	NP_001362268.1:p.Ser448Pro
NM_001375340.1:c.*185T>C	NP_001362269.1:n.*185T>C
NM_001375341.1:c.1348T>C	NP_001362270.1:p.Ser450Pro
NM_001375342.1:c.1324T>C	NP_001362271.1:p.Ser442Pro
NM_001375343.1:c.1447T>C	NP_001362272.1:p.Ser483Pro
NM_001375344.1:c.1390T>C	NP_001362273.1:p.Ser464Pro
NM_001375345.1:c.1261T>C	NP_001362274.1:p.Ser421Pro
NM_001375346.1:c.1285T>C	NP_001362275.1:p.Ser429Pro
NM_001375347.1:c.1264T>C	NP_001362276.1:p.Ser422Pro
NM_001375348.1:c.907T>C	NP_001362277.1:p.Ser303Pro
NM_001375349.1:c.1042T>C	NP_001362278.1:p.Ser348Pro
NM_001375350.1:c.931T>C	NP_001362279.1:p.Ser311Pro
NM_198904.3:c.1351T>C	NP_944494.1:p.Ser451Pro
NM_198904.4:c.1351T>C MANE Select	NP_944494.1:p.Ser451Pro