Canonical Allele Identifier: CA3631681

Gene: GCNT2

Linked Data

• dbSNP Id: rs752543627
• ExAC: 6:10529369 T / TG
• gnomAD v2: 6-10529369-T-TG
• gnomAD v4: 6-10529136-T-TG
• MyVariant Identifiers: chr6:g.10529369_10529370insG (hg19) ; chr6:g.10529136_10529137insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529137dup , CM000668.2:g.10529137dup	GRCh38
NC_000006.11:g.10529370dup , CM000668.1:g.10529370dup	GRCh37
NC_000006.10:g.10637356dup	NCBI36
NG_007469.3:g.41915dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+296dup
ENST00000483204.2:n.802dup
ENST00000495262.7:c.226dup MANE Select	ENSP00000419411.2:p.Glu76GlyfsTer15
ENST00000379597.7:c.226dup	ENSP00000368917.3:p.Glu76GlyfsTer15
ENST00000397423.6:n.484+296dup
ENST00000410107.5:c.67+19979dup	ENSP00000386321.1:n.67+19979dup
ENST00000474518.1:n.508+296dup
ENST00000474983.5:n.803dup
ENST00000475577.5:n.254+1477dup
ENST00000483204.1:n.802dup
ENST00000489225.5:n.283+36206dup
ENST00000489819.5:n.175+7543dup
ENST00000495262.5:c.226dup	ENSP00000419411.1:p.Glu76GlyfsTer15
NM_145649.4:c.226dup	NP_663624.1:p.Glu76GlyfsTer15
XM_005248999.2:c.-6dup	XP_005249056.1:n.-6dup
XM_006715052.2:c.226dup	XP_006715115.1:p.Glu76GlyfsTer15
XM_006715053.2:c.226dup	XP_006715116.1:p.Glu76GlyfsTer15
XM_011514465.1:c.226dup	XP_011512767.1:p.Glu76GlyfsTer15
XM_011514467.1:c.-6dup	XP_011512769.1:n.-6dup
XM_011514468.1:c.226dup	XP_011512770.1:p.Glu76GlyfsTer15
XR_926136.1:n.777dup
XM_006715052.3:c.226dup	XP_006715115.1:p.Glu76GlyfsTer15
XM_011514468.3:c.226dup	XP_011512770.1:p.Glu76GlyfsTer15
XM_017010732.2:c.226dup	XP_016866221.1:p.Glu76GlyfsTer15
XR_002956275.1:n.777dup
XR_926136.2:n.775dup
NM_001374747.1:c.226dup	NP_001361676.1:p.Glu76GlyfsTer15
NM_145649.5:c.226dup MANE Select	NP_663624.1:p.Glu76GlyfsTer15