Canonical Allele Identifier: CA362183859

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580282A>C (hg19) ; chr5:g.162153276A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153276A>C , CM000667.2:g.162153276A>C	GRCh38
NC_000005.9:g.161580282A>C , CM000667.1:g.161580282A>C	GRCh37
NC_000005.8:g.161512860A>C	NCBI36
NG_009290.1:g.90635A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1337A>C
ENST00000361925.9:c.1432A>C	ENSP00000354651.5:p.Ile478Leu
ENST00000523372.2:c.1395A>C
ENST00000638253.1:n.590A>C
ENST00000638552.1:c.1027A>C	ENSP00000491763.1:p.Ile343Leu
ENST00000638660.1:c.1051A>C	ENSP00000492869.1:p.Ile351Leu
ENST00000638772.1:c.*3933A>C	ENSP00000491557.1:n.*3933A>C
ENST00000638877.1:c.1213A>C
ENST00000639046.1:c.703A>C	ENSP00000492659.1:p.Ile235Leu
ENST00000639111.2:c.1312A>C	ENSP00000492125.2:p.Ile438Leu
ENST00000639213.2:c.1336A>C MANE Select	ENSP00000491909.2:p.Ile446Leu
ENST00000639278.1:c.1999A>C	ENSP00000491958.1:n.1999A>C
ENST00000639384.1:c.*1517A>C	ENSP00000491240.1:n.*1517A>C
ENST00000639424.1:c.*536A>C	ENSP00000491245.1:n.*536A>C
ENST00000639683.1:c.1270A>C	ENSP00000492581.1:p.Ile424Leu
ENST00000639975.1:c.1246A>C	ENSP00000492096.1:p.Ile416Leu
ENST00000640500.1:n.610A>C
ENST00000640739.1:n.6283A>C
ENST00000640910.1:c.774A>C
ENST00000640985.1:c.1249A>C	ENSP00000492293.1:p.Ile417Leu
ENST00000641017.1:c.1405A>C	ENSP00000493461.1:p.Ile469Leu
ENST00000356592.7:c.1336A>C	ENSP00000349000.3:p.Ile446Leu
ENST00000361925.8:c.1312A>C	ENSP00000354651.4:p.Ile438Leu
ENST00000414552.6:c.1456A>C	ENSP00000410732.2:p.Ile486Leu
ENST00000522990.5:c.*914A>C	ENSP00000430732.1:n.*914A>C
ENST00000523372.1:c.1433A>C	ENSP00000430124.1:n.1433A>C
NM_000816.3:c.1312A>C	NP_000807.2:p.Ile438Leu
NM_198903.2:c.1456A>C	NP_944493.2:p.Ile486Leu
NM_198904.2:c.1336A>C	NP_944494.1:p.Ile446Leu
NM_001375339.1:c.1327A>C	NP_001362268.1:p.Ile443Leu
NM_001375340.1:c.*170A>C	NP_001362269.1:n.*170A>C
NM_001375341.1:c.1333A>C	NP_001362270.1:p.Ile445Leu
NM_001375342.1:c.1309A>C	NP_001362271.1:p.Ile437Leu
NM_001375343.1:c.1432A>C	NP_001362272.1:p.Ile478Leu
NM_001375344.1:c.1375A>C	NP_001362273.1:p.Ile459Leu
NM_001375345.1:c.1246A>C	NP_001362274.1:p.Ile416Leu
NM_001375346.1:c.1270A>C	NP_001362275.1:p.Ile424Leu
NM_001375347.1:c.1249A>C	NP_001362276.1:p.Ile417Leu
NM_001375348.1:c.892A>C	NP_001362277.1:p.Ile298Leu
NM_001375349.1:c.1027A>C	NP_001362278.1:p.Ile343Leu
NM_001375350.1:c.916A>C	NP_001362279.1:p.Ile306Leu
NM_198904.3:c.1336A>C	NP_944494.1:p.Ile446Leu
NM_198904.4:c.1336A>C MANE Select	NP_944494.1:p.Ile446Leu