Canonical Allele Identifier: CA3631727

Gene: GCNT2

Linked Data

• dbSNP Id: rs374599892
• ExAC: 6:10529519 T / G
• gnomAD v2: 6-10529519-T-G
• MyVariant Identifiers: chr6:g.10529519T>G (hg19) ; chr6:g.10529286T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529286T>G , CM000668.2:g.10529286T>G	GRCh38
NC_000006.11:g.10529519T>G , CM000668.1:g.10529519T>G	GRCh37
NC_000006.10:g.10637505T>G	NCBI36
NG_007469.3:g.42064T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+445T>G
ENST00000495262.7:c.375T>G MANE Select	ENSP00000419411.2:p.Cys125Trp
ENST00000379597.7:c.375T>G	ENSP00000368917.3:p.Cys125Trp
ENST00000397423.6:n.484+445T>G
ENST00000410107.5:c.67+20128T>G	ENSP00000386321.1:n.67+20128T>G
ENST00000474518.1:n.508+445T>G
ENST00000474983.5:n.952T>G
ENST00000475577.5:n.254+1626T>G
ENST00000483204.1:n.951T>G
ENST00000489225.5:n.283+36355T>G
ENST00000489819.5:n.175+7692T>G
ENST00000495262.5:c.375T>G	ENSP00000419411.1:p.Cys125Trp
NM_145649.4:c.375T>G	NP_663624.1:p.Cys125Trp
XM_005248999.2:c.144T>G	XP_005249056.1:p.Cys48Trp
XM_006715052.2:c.375T>G	XP_006715115.1:p.Cys125Trp
XM_006715053.2:c.375T>G	XP_006715116.1:p.Cys125Trp
XM_011514465.1:c.375T>G	XP_011512767.1:p.Cys125Trp
XM_011514467.1:c.144T>G	XP_011512769.1:p.Cys48Trp
XM_011514468.1:c.375T>G	XP_011512770.1:p.Cys125Trp
XR_926136.1:n.926T>G
XM_006715052.3:c.375T>G	XP_006715115.1:p.Cys125Trp
XM_011514468.3:c.375T>G	XP_011512770.1:p.Cys125Trp
XM_017010732.2:c.375T>G	XP_016866221.1:p.Cys125Trp
XR_002956275.1:n.926T>G
XR_926136.2:n.924T>G
NM_001374747.1:c.375T>G	NP_001361676.1:p.Cys125Trp
NM_145649.5:c.375T>G MANE Select	NP_663624.1:p.Cys125Trp