Canonical Allele Identifier: CA362183967

Gene: GABRG2

Linked Data

• ClinVar Variation Id: 1325835
• ClinVar RCV Id: RCV001785372 ; RCV001868874 ; RCV003992555
• dbSNP Id: rs2113651364
• MyVariant Identifiers: chr5:g.161580304C>T (hg19) ; chr5:g.162153298C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153298C>T , CM000667.2:g.162153298C>T	GRCh38
NC_000005.9:g.161580304C>T , CM000667.1:g.161580304C>T	GRCh37
NC_000005.8:g.161512882C>T	NCBI36
NG_009290.1:g.90657C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1359C>T
ENST00000361925.9:c.1454C>T	ENSP00000354651.5:p.Ala485Val
ENST00000523372.2:c.1417C>T
ENST00000638253.1:n.612C>T
ENST00000638552.1:c.1049C>T	ENSP00000491763.1:p.Ala350Val
ENST00000638660.1:c.1073C>T	ENSP00000492869.1:p.Ala358Val
ENST00000638772.1:c.*3955C>T	ENSP00000491557.1:n.*3955C>T
ENST00000638877.1:c.1235C>T
ENST00000639046.1:c.725C>T	ENSP00000492659.1:p.Ala242Val
ENST00000639111.2:c.1334C>T	ENSP00000492125.2:p.Ala445Val
ENST00000639213.2:c.1358C>T MANE Select	ENSP00000491909.2:p.Ala453Val
ENST00000639278.1:c.2021C>T	ENSP00000491958.1:n.2021C>T
ENST00000639384.1:c.*1539C>T	ENSP00000491240.1:n.*1539C>T
ENST00000639424.1:c.*558C>T	ENSP00000491245.1:n.*558C>T
ENST00000639683.1:c.1292C>T	ENSP00000492581.1:p.Ala431Val
ENST00000639975.1:c.1268C>T	ENSP00000492096.1:p.Ala423Val
ENST00000640500.1:n.632C>T
ENST00000640739.1:n.6305C>T
ENST00000640910.1:c.796C>T
ENST00000640985.1:c.1271C>T	ENSP00000492293.1:p.Ala424Val
ENST00000641017.1:c.1427C>T	ENSP00000493461.1:p.Ala476Val
ENST00000356592.7:c.1358C>T	ENSP00000349000.3:p.Ala453Val
ENST00000361925.8:c.1334C>T	ENSP00000354651.4:p.Ala445Val
ENST00000414552.6:c.1478C>T	ENSP00000410732.2:p.Ala493Val
ENST00000522990.5:c.*936C>T	ENSP00000430732.1:n.*936C>T
ENST00000523372.1:c.1455C>T	ENSP00000430124.1:n.1455C>T
NM_000816.3:c.1334C>T	NP_000807.2:p.Ala445Val
NM_198903.2:c.1478C>T	NP_944493.2:p.Ala493Val
NM_198904.2:c.1358C>T	NP_944494.1:p.Ala453Val
NM_001375339.1:c.1349C>T	NP_001362268.1:p.Ala450Val
NM_001375340.1:c.*192C>T	NP_001362269.1:n.*192C>T
NM_001375341.1:c.1355C>T	NP_001362270.1:p.Ala452Val
NM_001375342.1:c.1331C>T	NP_001362271.1:p.Ala444Val
NM_001375343.1:c.1454C>T	NP_001362272.1:p.Ala485Val
NM_001375344.1:c.1397C>T	NP_001362273.1:p.Ala466Val
NM_001375345.1:c.1268C>T	NP_001362274.1:p.Ala423Val
NM_001375346.1:c.1292C>T	NP_001362275.1:p.Ala431Val
NM_001375347.1:c.1271C>T	NP_001362276.1:p.Ala424Val
NM_001375348.1:c.914C>T	NP_001362277.1:p.Ala305Val
NM_001375349.1:c.1049C>T	NP_001362278.1:p.Ala350Val
NM_001375350.1:c.938C>T	NP_001362279.1:p.Ala313Val
NM_198904.3:c.1358C>T	NP_944494.1:p.Ala453Val
NM_198904.4:c.1358C>T MANE Select	NP_944494.1:p.Ala453Val