Canonical Allele Identifier: CA2677293113

Gene: GCNT2

Linked Data

• gnomAD v4: 6-10529400-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529401dup , CM000668.2:g.10529401dup	GRCh38
NC_000006.11:g.10529634dup , CM000668.1:g.10529634dup	GRCh37
NC_000006.10:g.10637620dup	NCBI36
NG_007469.3:g.42179dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000397423.7:n.484+560dup
ENST00000495262.7:c.490dup MANE Select	ENSP00000419411.2:p.Ile164AsnfsTer7
ENST00000379597.7:c.490dup	ENSP00000368917.3:p.Ile164AsnfsTer7
ENST00000397423.6:n.484+560dup
ENST00000410107.5:c.67+20243dup	ENSP00000386321.1:n.67+20243dup
ENST00000474518.1:n.508+560dup
ENST00000474983.5:n.1067dup
ENST00000475577.5:n.254+1741dup
ENST00000483204.1:n.1066dup
ENST00000489225.5:n.283+36470dup
ENST00000489819.5:n.175+7807dup
ENST00000495262.5:c.490dup	ENSP00000419411.1:p.Ile164AsnfsTer7
NM_145649.4:c.490dup	NP_663624.1:p.Ile164AsnfsTer7
XM_005248999.2:c.259dup	XP_005249056.1:p.Ile87AsnfsTer7
XM_006715052.2:c.490dup	XP_006715115.1:p.Ile164AsnfsTer7
XM_006715053.2:c.490dup	XP_006715116.1:p.Ile164AsnfsTer7
XM_011514465.1:c.490dup	XP_011512767.1:p.Ile164AsnfsTer7
XM_011514467.1:c.259dup	XP_011512769.1:p.Ile87AsnfsTer7
XM_011514468.1:c.490dup	XP_011512770.1:p.Ile164AsnfsTer7
XR_926136.1:n.1041dup
XM_006715052.3:c.490dup	XP_006715115.1:p.Ile164AsnfsTer7
XM_011514468.3:c.490dup	XP_011512770.1:p.Ile164AsnfsTer7
XM_017010732.2:c.490dup	XP_016866221.1:p.Ile164AsnfsTer7
XR_002956275.1:n.1041dup
XR_926136.2:n.1039dup
NM_001374747.1:c.490dup	NP_001361676.1:p.Ile164AsnfsTer7
NM_145649.5:c.490dup MANE Select	NP_663624.1:p.Ile164AsnfsTer7