Canonical Allele Identifier: CA362183617

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580222T>A (hg19) ; chr5:g.162153216T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153216T>A , CM000667.2:g.162153216T>A	GRCh38
NC_000005.9:g.161580222T>A , CM000667.1:g.161580222T>A	GRCh37
NC_000005.8:g.161512800T>A	NCBI36
NG_009290.1:g.90575T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1277T>A
ENST00000361925.9:c.1372T>A	ENSP00000354651.5:p.Phe458Ile
ENST00000523372.2:c.1335T>A
ENST00000638253.1:n.530T>A
ENST00000638552.1:c.967T>A	ENSP00000491763.1:p.Phe323Ile
ENST00000638660.1:c.991T>A	ENSP00000492869.1:p.Phe331Ile
ENST00000638772.1:c.*3873T>A	ENSP00000491557.1:n.*3873T>A
ENST00000638877.1:c.1153T>A
ENST00000639046.1:c.643T>A	ENSP00000492659.1:p.Phe215Ile
ENST00000639111.2:c.1252T>A	ENSP00000492125.2:p.Phe418Ile
ENST00000639213.2:c.1276T>A MANE Select	ENSP00000491909.2:p.Phe426Ile
ENST00000639278.1:c.1939T>A	ENSP00000491958.1:n.1939T>A
ENST00000639384.1:c.*1457T>A	ENSP00000491240.1:n.*1457T>A
ENST00000639424.1:c.*476T>A	ENSP00000491245.1:n.*476T>A
ENST00000639683.1:c.1210T>A	ENSP00000492581.1:p.Phe404Ile
ENST00000639975.1:c.1186T>A	ENSP00000492096.1:p.Phe396Ile
ENST00000640500.1:n.550T>A
ENST00000640739.1:n.6223T>A
ENST00000640910.1:c.714T>A
ENST00000640985.1:c.1189T>A	ENSP00000492293.1:p.Phe397Ile
ENST00000641017.1:c.1345T>A	ENSP00000493461.1:p.Phe449Ile
ENST00000356592.7:c.1276T>A	ENSP00000349000.3:p.Phe426Ile
ENST00000361925.8:c.1252T>A	ENSP00000354651.4:p.Phe418Ile
ENST00000414552.6:c.1396T>A	ENSP00000410732.2:p.Phe466Ile
ENST00000522990.5:c.*854T>A	ENSP00000430732.1:n.*854T>A
ENST00000523372.1:c.1373T>A	ENSP00000430124.1:n.1373T>A
NM_000816.3:c.1252T>A	NP_000807.2:p.Phe418Ile
NM_198903.2:c.1396T>A	NP_944493.2:p.Phe466Ile
NM_198904.2:c.1276T>A	NP_944494.1:p.Phe426Ile
NM_001375339.1:c.1267T>A	NP_001362268.1:p.Phe423Ile
NM_001375340.1:c.*110T>A	NP_001362269.1:n.*110T>A
NM_001375341.1:c.1273T>A	NP_001362270.1:p.Phe425Ile
NM_001375342.1:c.1249T>A	NP_001362271.1:p.Phe417Ile
NM_001375343.1:c.1372T>A	NP_001362272.1:p.Phe458Ile
NM_001375344.1:c.1315T>A	NP_001362273.1:p.Phe439Ile
NM_001375345.1:c.1186T>A	NP_001362274.1:p.Phe396Ile
NM_001375346.1:c.1210T>A	NP_001362275.1:p.Phe404Ile
NM_001375347.1:c.1189T>A	NP_001362276.1:p.Phe397Ile
NM_001375348.1:c.832T>A	NP_001362277.1:p.Phe278Ile
NM_001375349.1:c.967T>A	NP_001362278.1:p.Phe323Ile
NM_001375350.1:c.856T>A	NP_001362279.1:p.Phe286Ile
NM_198904.3:c.1276T>A	NP_944494.1:p.Phe426Ile
NM_198904.4:c.1276T>A MANE Select	NP_944494.1:p.Phe426Ile