Canonical Allele Identifier: CA362183660

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580233T>G (hg19) ; chr5:g.162153227T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153227T>G , CM000667.2:g.162153227T>G	GRCh38
NC_000005.9:g.161580233T>G , CM000667.1:g.161580233T>G	GRCh37
NC_000005.8:g.161512811T>G	NCBI36
NG_009290.1:g.90586T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1288T>G
ENST00000361925.9:c.1383T>G	ENSP00000354651.5:p.Phe461Leu
ENST00000523372.2:c.1346T>G
ENST00000638253.1:n.541T>G
ENST00000638552.1:c.978T>G	ENSP00000491763.1:p.Phe326Leu
ENST00000638660.1:c.1002T>G	ENSP00000492869.1:p.Phe334Leu
ENST00000638772.1:c.*3884T>G	ENSP00000491557.1:n.*3884T>G
ENST00000638877.1:c.1164T>G
ENST00000639046.1:c.654T>G	ENSP00000492659.1:p.Phe218Leu
ENST00000639111.2:c.1263T>G	ENSP00000492125.2:p.Phe421Leu
ENST00000639213.2:c.1287T>G MANE Select	ENSP00000491909.2:p.Phe429Leu
ENST00000639278.1:c.1950T>G	ENSP00000491958.1:n.1950T>G
ENST00000639384.1:c.*1468T>G	ENSP00000491240.1:n.*1468T>G
ENST00000639424.1:c.*487T>G	ENSP00000491245.1:n.*487T>G
ENST00000639683.1:c.1221T>G	ENSP00000492581.1:p.Phe407Leu
ENST00000639975.1:c.1197T>G	ENSP00000492096.1:p.Phe399Leu
ENST00000640500.1:n.561T>G
ENST00000640739.1:n.6234T>G
ENST00000640910.1:c.725T>G
ENST00000640985.1:c.1200T>G	ENSP00000492293.1:p.Phe400Leu
ENST00000641017.1:c.1356T>G	ENSP00000493461.1:p.Phe452Leu
ENST00000356592.7:c.1287T>G	ENSP00000349000.3:p.Phe429Leu
ENST00000361925.8:c.1263T>G	ENSP00000354651.4:p.Phe421Leu
ENST00000414552.6:c.1407T>G	ENSP00000410732.2:p.Phe469Leu
ENST00000522990.5:c.*865T>G	ENSP00000430732.1:n.*865T>G
ENST00000523372.1:c.1384T>G	ENSP00000430124.1:n.1384T>G
NM_000816.3:c.1263T>G	NP_000807.2:p.Phe421Leu
NM_198903.2:c.1407T>G	NP_944493.2:p.Phe469Leu
NM_198904.2:c.1287T>G	NP_944494.1:p.Phe429Leu
NM_001375339.1:c.1278T>G	NP_001362268.1:p.Phe426Leu
NM_001375340.1:c.*121T>G	NP_001362269.1:n.*121T>G
NM_001375341.1:c.1284T>G	NP_001362270.1:p.Phe428Leu
NM_001375342.1:c.1260T>G	NP_001362271.1:p.Phe420Leu
NM_001375343.1:c.1383T>G	NP_001362272.1:p.Phe461Leu
NM_001375344.1:c.1326T>G	NP_001362273.1:p.Phe442Leu
NM_001375345.1:c.1197T>G	NP_001362274.1:p.Phe399Leu
NM_001375346.1:c.1221T>G	NP_001362275.1:p.Phe407Leu
NM_001375347.1:c.1200T>G	NP_001362276.1:p.Phe400Leu
NM_001375348.1:c.843T>G	NP_001362277.1:p.Phe281Leu
NM_001375349.1:c.978T>G	NP_001362278.1:p.Phe326Leu
NM_001375350.1:c.867T>G	NP_001362279.1:p.Phe289Leu
NM_198904.3:c.1287T>G	NP_944494.1:p.Phe429Leu
NM_198904.4:c.1287T>G MANE Select	NP_944494.1:p.Phe429Leu