Canonical Allele Identifier: CA2677293110

Gene: GCNT2

Linked Data

• gnomAD v4: 6-10529197-CCTTTAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529201_10529206del , CM000668.2:g.10529201_10529206del	GRCh38
NC_000006.11:g.10529434_10529439del , CM000668.1:g.10529434_10529439del	GRCh37
NC_000006.10:g.10637420_10637425del	NCBI36
NG_007469.3:g.41979_41984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+360_484+365del
ENST00000483204.2:n.866_871del
ENST00000495262.7:c.290_295del MANE Select	ENSP00000419411.2:p.Leu97_Ala98del
ENST00000379597.7:c.290_295del	ENSP00000368917.3:p.Leu97_Ala98del
ENST00000397423.6:n.484+360_484+365del
ENST00000410107.5:c.67+20043_67+20048del	ENSP00000386321.1:n.67+20043_67+20048del
ENST00000474518.1:n.508+360_508+365del
ENST00000474983.5:n.867_872del
ENST00000475577.5:n.254+1541_254+1546del
ENST00000483204.1:n.866_871del
ENST00000489225.5:n.283+36270_283+36275del
ENST00000489819.5:n.175+7607_175+7612del
ENST00000495262.5:c.290_295del	ENSP00000419411.1:p.Leu97_Ala98del
NM_145649.4:c.290_295del	NP_663624.1:p.Leu97_Ala98del
XM_005248999.2:c.59_64del	XP_005249056.1:p.Leu20_Ala21del
XM_006715052.2:c.290_295del	XP_006715115.1:p.Leu97_Ala98del
XM_006715053.2:c.290_295del	XP_006715116.1:p.Leu97_Ala98del
XM_011514465.1:c.290_295del	XP_011512767.1:p.Leu97_Ala98del
XM_011514467.1:c.59_64del	XP_011512769.1:p.Leu20_Ala21del
XM_011514468.1:c.290_295del	XP_011512770.1:p.Leu97_Ala98del
XR_926136.1:n.841_846del
XM_006715052.3:c.290_295del	XP_006715115.1:p.Leu97_Ala98del
XM_011514468.3:c.290_295del	XP_011512770.1:p.Leu97_Ala98del
XM_017010732.2:c.290_295del	XP_016866221.1:p.Leu97_Ala98del
XR_002956275.1:n.841_846del
XR_926136.2:n.839_844del
NM_001374747.1:c.290_295del	NP_001361676.1:p.Leu97_Ala98del
NM_145649.5:c.290_295del MANE Select	NP_663624.1:p.Leu97_Ala98del