Canonical Allele Identifier: CA447691969

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580305T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153299T>C , CM000667.2:g.162153299T>C	GRCh38
NC_000005.9:g.161580305T>C , CM000667.1:g.161580305T>C	GRCh37
NC_000005.8:g.161512883T>C	NCBI36
NG_009290.1:g.90658T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1360T>C
ENST00000361925.9:c.1455T>C	ENSP00000354651.5:p.Ala485=
ENST00000523372.2:c.1418T>C
ENST00000638253.1:n.613T>C
ENST00000638552.1:c.1050T>C	ENSP00000491763.1:p.Ala350=
ENST00000638660.1:c.1074T>C	ENSP00000492869.1:p.Ala358=
ENST00000638772.1:c.*3956T>C	ENSP00000491557.1:n.*3956T>C
ENST00000638877.1:c.1236T>C
ENST00000639046.1:c.726T>C	ENSP00000492659.1:p.Ala242=
ENST00000639111.2:c.1335T>C	ENSP00000492125.2:p.Ala445=
ENST00000639213.2:c.1359T>C MANE Select	ENSP00000491909.2:p.Ala453=
ENST00000639278.1:c.2022T>C	ENSP00000491958.1:n.2022T>C
ENST00000639384.1:c.*1540T>C	ENSP00000491240.1:n.*1540T>C
ENST00000639424.1:c.*559T>C	ENSP00000491245.1:n.*559T>C
ENST00000639683.1:c.1293T>C	ENSP00000492581.1:p.Ala431=
ENST00000639975.1:c.1269T>C	ENSP00000492096.1:p.Ala423=
ENST00000640500.1:n.633T>C
ENST00000640739.1:n.6306T>C
ENST00000640910.1:c.797T>C
ENST00000640985.1:c.1272T>C	ENSP00000492293.1:p.Ala424=
ENST00000641017.1:c.1428T>C	ENSP00000493461.1:p.Ala476=
ENST00000356592.7:c.1359T>C	ENSP00000349000.3:p.Ala453=
ENST00000361925.8:c.1335T>C	ENSP00000354651.4:p.Ala445=
ENST00000414552.6:c.1479T>C	ENSP00000410732.2:p.Ala493=
ENST00000522990.5:c.*937T>C	ENSP00000430732.1:n.*937T>C
ENST00000523372.1:c.1456T>C	ENSP00000430124.1:n.1456T>C
NM_000816.3:c.1335T>C	NP_000807.2:p.Ala445=
NM_198903.2:c.1479T>C	NP_944493.2:p.Ala493=
NM_198904.2:c.1359T>C	NP_944494.1:p.Ala453=
NM_001375339.1:c.1350T>C	NP_001362268.1:p.Ala450=
NM_001375340.1:c.*193T>C	NP_001362269.1:n.*193T>C
NM_001375341.1:c.1356T>C	NP_001362270.1:p.Ala452=
NM_001375342.1:c.1332T>C	NP_001362271.1:p.Ala444=
NM_001375343.1:c.1455T>C	NP_001362272.1:p.Ala485=
NM_001375344.1:c.1398T>C	NP_001362273.1:p.Ala466=
NM_001375345.1:c.1269T>C	NP_001362274.1:p.Ala423=
NM_001375346.1:c.1293T>C	NP_001362275.1:p.Ala431=
NM_001375347.1:c.1272T>C	NP_001362276.1:p.Ala424=
NM_001375348.1:c.915T>C	NP_001362277.1:p.Ala305=
NM_001375349.1:c.1050T>C	NP_001362278.1:p.Ala350=
NM_001375350.1:c.939T>C	NP_001362279.1:p.Ala313=
NM_198904.3:c.1359T>C	NP_944494.1:p.Ala453=
NM_198904.4:c.1359T>C MANE Select	NP_944494.1:p.Ala453=