Canonical Allele Identifier: CA917674645

Gene: GCNT2

Linked Data

• dbSNP Id: rs1561778369
• gnomAD v4: 6-10529643-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529644dup , CM000668.2:g.10529644dup	GRCh38
NC_000006.11:g.10529877dup , CM000668.1:g.10529877dup	GRCh37
NC_000006.10:g.10637863dup	NCBI36
NG_007469.3:g.42422dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+803dup
ENST00000495262.7:c.733dup MANE Select	ENSP00000419411.2:p.Ile245AsnfsTer2
ENST00000379597.7:c.733dup	ENSP00000368917.3:p.Ile245AsnfsTer2
ENST00000397423.6:n.484+803dup
ENST00000410107.5:c.67+20486dup	ENSP00000386321.1:n.67+20486dup
ENST00000474518.1:n.508+803dup
ENST00000474983.5:n.1310dup
ENST00000475577.5:n.254+1984dup
ENST00000483204.1:n.1309dup
ENST00000489225.5:n.283+36713dup
ENST00000489819.5:n.175+8050dup
ENST00000495262.5:c.733dup	ENSP00000419411.1:p.Ile245AsnfsTer2
NM_145649.4:c.733dup	NP_663624.1:p.Ile245AsnfsTer2
XM_005248999.2:c.502dup	XP_005249056.1:p.Ile168AsnfsTer2
XM_006715052.2:c.733dup	XP_006715115.1:p.Ile245AsnfsTer2
XM_006715053.2:c.733dup	XP_006715116.1:p.Ile245AsnfsTer2
XM_011514465.1:c.733dup	XP_011512767.1:p.Ile245AsnfsTer2
XM_011514467.1:c.502dup	XP_011512769.1:p.Ile168AsnfsTer2
XM_011514468.1:c.733dup	XP_011512770.1:p.Ile245AsnfsTer2
XR_926136.1:n.1284dup
XM_006715052.3:c.733dup	XP_006715115.1:p.Ile245AsnfsTer2
XM_011514468.3:c.733dup	XP_011512770.1:p.Ile245AsnfsTer2
XM_017010732.2:c.733dup	XP_016866221.1:p.Ile245AsnfsTer2
XR_002956275.1:n.1284dup
XR_926136.2:n.1282dup
NM_001374747.1:c.733dup	NP_001361676.1:p.Ile245AsnfsTer2
NM_145649.5:c.733dup MANE Select	NP_663624.1:p.Ile245AsnfsTer2