Canonical Allele Identifier: CA362182562

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161576239C>A (hg19) ; chr5:g.162149233C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162149233C>A , CM000667.2:g.162149233C>A	GRCh38
NC_000005.9:g.161576239C>A , CM000667.1:g.161576239C>A	GRCh37
NC_000005.8:g.161508817C>A	NCBI36
NG_009290.1:g.86592C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1049C>A
ENST00000361925.9:c.1168C>A	ENSP00000354651.5:p.Leu390Met
ENST00000523372.2:c.1131C>A
ENST00000638253.1:n.302C>A
ENST00000638552.1:c.763C>A	ENSP00000491763.1:p.Leu255Met
ENST00000638660.1:c.763C>A	ENSP00000492869.1:p.Leu255Met
ENST00000638772.1:c.1048C>A	ENSP00000491557.1:p.Leu350Met
ENST00000638877.1:c.925C>A
ENST00000639046.1:c.439C>A	ENSP00000492659.1:p.Leu147Met
ENST00000639111.2:c.1048C>A	ENSP00000492125.2:p.Leu350Met
ENST00000639213.2:c.1048C>A MANE Select	ENSP00000491909.2:p.Leu350Met
ENST00000639278.1:c.976C>A	ENSP00000491958.1:p.Leu326Met
ENST00000639384.1:c.1048C>A	ENSP00000491240.1:p.Leu350Met
ENST00000639424.1:c.*248C>A	ENSP00000491245.1:n.*248C>A
ENST00000639683.1:c.982C>A	ENSP00000492581.1:p.Leu328Met
ENST00000639975.1:c.982C>A	ENSP00000492096.1:p.Leu328Met
ENST00000640500.1:n.346C>A
ENST00000640574.1:c.763C>A	ENSP00000491582.1:p.Leu255Met
ENST00000640739.1:n.3579C>A
ENST00000640910.1:c.486C>A
ENST00000640985.1:c.961C>A	ENSP00000492293.1:p.Leu321Met
ENST00000641017.1:c.1048C>A	ENSP00000493461.1:p.Leu350Met
ENST00000356592.7:c.1048C>A	ENSP00000349000.3:p.Leu350Met
ENST00000361925.8:c.1048C>A	ENSP00000354651.4:p.Leu350Met
ENST00000414552.6:c.1168C>A	ENSP00000410732.2:p.Leu390Met
ENST00000522990.5:c.*650C>A	ENSP00000430732.1:n.*650C>A
ENST00000523372.1:c.1169C>A	ENSP00000430124.1:n.1169C>A
NM_000816.3:c.1048C>A	NP_000807.2:p.Leu350Met
NM_198903.2:c.1168C>A	NP_944493.2:p.Leu390Met
NM_198904.2:c.1048C>A	NP_944494.1:p.Leu350Met
NM_001375339.1:c.1039C>A	NP_001362268.1:p.Leu347Met
NM_001375340.1:c.923-2497C>A	NP_001362269.1:n.923-2497C>A
NM_001375341.1:c.1045C>A	NP_001362270.1:p.Leu349Met
NM_001375342.1:c.1045C>A	NP_001362271.1:p.Leu349Met
NM_001375343.1:c.1168C>A	NP_001362272.1:p.Leu390Met
NM_001375344.1:c.1087C>A	NP_001362273.1:p.Leu363Met
NM_001375345.1:c.982C>A	NP_001362274.1:p.Leu328Met
NM_001375346.1:c.982C>A	NP_001362275.1:p.Leu328Met
NM_001375347.1:c.961C>A	NP_001362276.1:p.Leu321Met
NM_001375348.1:c.628C>A	NP_001362277.1:p.Leu210Met
NM_001375349.1:c.763C>A	NP_001362278.1:p.Leu255Met
NM_001375350.1:c.628C>A	NP_001362279.1:p.Leu210Met
NM_198904.3:c.1048C>A	NP_944494.1:p.Leu350Met
NM_198904.4:c.1048C>A MANE Select	NP_944494.1:p.Leu350Met