Canonical Allele Identifier: CA362183260

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580141A>C (hg19) ; chr5:g.162153135A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153135A>C , CM000667.2:g.162153135A>C	GRCh38
NC_000005.9:g.161580141A>C , CM000667.1:g.161580141A>C	GRCh37
NC_000005.8:g.161512719A>C	NCBI36
NG_009290.1:g.90494A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1196A>C
ENST00000361925.9:c.1291A>C	ENSP00000354651.5:p.Met431Leu
ENST00000523372.2:c.1254A>C
ENST00000638253.1:n.449A>C
ENST00000638552.1:c.886A>C	ENSP00000491763.1:p.Met296Leu
ENST00000638660.1:c.910A>C	ENSP00000492869.1:p.Met304Leu
ENST00000638772.1:c.*3792A>C	ENSP00000491557.1:n.*3792A>C
ENST00000638877.1:c.1072A>C
ENST00000639046.1:c.562A>C	ENSP00000492659.1:p.Met188Leu
ENST00000639111.2:c.1171A>C	ENSP00000492125.2:p.Met391Leu
ENST00000639213.2:c.1195A>C MANE Select	ENSP00000491909.2:p.Met399Leu
ENST00000639278.1:c.1858A>C	ENSP00000491958.1:n.1858A>C
ENST00000639384.1:c.*1376A>C	ENSP00000491240.1:n.*1376A>C
ENST00000639424.1:c.*395A>C	ENSP00000491245.1:n.*395A>C
ENST00000639683.1:c.1129A>C	ENSP00000492581.1:p.Met377Leu
ENST00000639975.1:c.1105A>C	ENSP00000492096.1:p.Met369Leu
ENST00000640500.1:n.469A>C
ENST00000640739.1:n.6142A>C
ENST00000640910.1:c.633A>C
ENST00000640985.1:c.1108A>C	ENSP00000492293.1:p.Met370Leu
ENST00000641017.1:c.1264A>C	ENSP00000493461.1:p.Met422Leu
ENST00000356592.7:c.1195A>C	ENSP00000349000.3:p.Met399Leu
ENST00000361925.8:c.1171A>C	ENSP00000354651.4:p.Met391Leu
ENST00000414552.6:c.1315A>C	ENSP00000410732.2:p.Met439Leu
ENST00000522990.5:c.*773A>C	ENSP00000430732.1:n.*773A>C
ENST00000523372.1:c.1292A>C	ENSP00000430124.1:n.1292A>C
NM_000816.3:c.1171A>C	NP_000807.2:p.Met391Leu
NM_198903.2:c.1315A>C	NP_944493.2:p.Met439Leu
NM_198904.2:c.1195A>C	NP_944494.1:p.Met399Leu
NM_001375339.1:c.1186A>C	NP_001362268.1:p.Met396Leu
NM_001375340.1:c.*29A>C	NP_001362269.1:n.*29A>C
NM_001375341.1:c.1192A>C	NP_001362270.1:p.Met398Leu
NM_001375342.1:c.1168A>C	NP_001362271.1:p.Met390Leu
NM_001375343.1:c.1291A>C	NP_001362272.1:p.Met431Leu
NM_001375344.1:c.1234A>C	NP_001362273.1:p.Met412Leu
NM_001375345.1:c.1105A>C	NP_001362274.1:p.Met369Leu
NM_001375346.1:c.1129A>C	NP_001362275.1:p.Met377Leu
NM_001375347.1:c.1108A>C	NP_001362276.1:p.Met370Leu
NM_001375348.1:c.751A>C	NP_001362277.1:p.Met251Leu
NM_001375349.1:c.886A>C	NP_001362278.1:p.Met296Leu
NM_001375350.1:c.775A>C	NP_001362279.1:p.Met259Leu
NM_198904.3:c.1195A>C	NP_944494.1:p.Met399Leu
NM_198904.4:c.1195A>C MANE Select	NP_944494.1:p.Met399Leu