Canonical Allele Identifier: CA362184078

Gene: GABRG2

Linked Data

• gnomAD v4: 5-162153324-T-G
• COSMIC: COSM6170312
• MyVariant Identifiers: chr5:g.161580330T>G (hg19) ; chr5:g.162153324T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153324T>G , CM000667.2:g.162153324T>G	GRCh38
NC_000005.9:g.161580330T>G , CM000667.1:g.161580330T>G	GRCh37
NC_000005.8:g.161512908T>G	NCBI36
NG_009290.1:g.90683T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1385T>G
ENST00000361925.9:c.1480T>G	ENSP00000354651.5:p.Cys494Gly
ENST00000523372.2:c.1443T>G
ENST00000638253.1:n.638T>G
ENST00000638552.1:c.1075T>G	ENSP00000491763.1:p.Cys359Gly
ENST00000638660.1:c.1099T>G	ENSP00000492869.1:p.Cys367Gly
ENST00000638772.1:c.*3981T>G	ENSP00000491557.1:n.*3981T>G
ENST00000638877.1:c.1261T>G
ENST00000639046.1:c.751T>G	ENSP00000492659.1:p.Cys251Gly
ENST00000639111.2:c.1360T>G	ENSP00000492125.2:p.Cys454Gly
ENST00000639213.2:c.1384T>G MANE Select	ENSP00000491909.2:p.Cys462Gly
ENST00000639278.1:c.2047T>G	ENSP00000491958.1:n.2047T>G
ENST00000639384.1:c.*1565T>G	ENSP00000491240.1:n.*1565T>G
ENST00000639424.1:c.*584T>G	ENSP00000491245.1:n.*584T>G
ENST00000639683.1:c.1318T>G	ENSP00000492581.1:p.Cys440Gly
ENST00000639975.1:c.1294T>G	ENSP00000492096.1:p.Cys432Gly
ENST00000640500.1:n.658T>G
ENST00000640739.1:n.6331T>G
ENST00000640910.1:c.822T>G
ENST00000640985.1:c.1297T>G	ENSP00000492293.1:p.Cys433Gly
ENST00000641017.1:c.1453T>G	ENSP00000493461.1:p.Cys485Gly
ENST00000356592.7:c.1384T>G	ENSP00000349000.3:p.Cys462Gly
ENST00000361925.8:c.1360T>G	ENSP00000354651.4:p.Cys454Gly
ENST00000414552.6:c.1504T>G	ENSP00000410732.2:p.Cys502Gly
ENST00000522990.5:c.*962T>G	ENSP00000430732.1:n.*962T>G
ENST00000523372.1:c.1481T>G	ENSP00000430124.1:n.1481T>G
NM_000816.3:c.1360T>G	NP_000807.2:p.Cys454Gly
NM_198903.2:c.1504T>G	NP_944493.2:p.Cys502Gly
NM_198904.2:c.1384T>G	NP_944494.1:p.Cys462Gly
NM_001375339.1:c.1375T>G	NP_001362268.1:p.Cys459Gly
NM_001375340.1:c.*218T>G	NP_001362269.1:n.*218T>G
NM_001375341.1:c.1381T>G	NP_001362270.1:p.Cys461Gly
NM_001375342.1:c.1357T>G	NP_001362271.1:p.Cys453Gly
NM_001375343.1:c.1480T>G	NP_001362272.1:p.Cys494Gly
NM_001375344.1:c.1423T>G	NP_001362273.1:p.Cys475Gly
NM_001375345.1:c.1294T>G	NP_001362274.1:p.Cys432Gly
NM_001375346.1:c.1318T>G	NP_001362275.1:p.Cys440Gly
NM_001375347.1:c.1297T>G	NP_001362276.1:p.Cys433Gly
NM_001375348.1:c.940T>G	NP_001362277.1:p.Cys314Gly
NM_001375349.1:c.1075T>G	NP_001362278.1:p.Cys359Gly
NM_001375350.1:c.964T>G	NP_001362279.1:p.Cys322Gly
NM_198904.3:c.1384T>G	NP_944494.1:p.Cys462Gly
NM_198904.4:c.1384T>G MANE Select	NP_944494.1:p.Cys462Gly