Canonical Allele Identifier: CA2677293111

Gene: GCNT2

Linked Data

• gnomAD v4: 6-10529263-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529264del , CM000668.2:g.10529264del	GRCh38
NC_000006.11:g.10529497del , CM000668.1:g.10529497del	GRCh37
NC_000006.10:g.10637483del	NCBI36
NG_007469.3:g.42042del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+423del
ENST00000483204.2:n.929del
ENST00000495262.7:c.353del MANE Select	ENSP00000419411.2:p.Tyr118LeufsTer23
ENST00000379597.7:c.353del	ENSP00000368917.3:p.Tyr118LeufsTer23
ENST00000397423.6:n.484+423del
ENST00000410107.5:c.67+20106del	ENSP00000386321.1:n.67+20106del
ENST00000474518.1:n.508+423del
ENST00000474983.5:n.930del
ENST00000475577.5:n.254+1604del
ENST00000483204.1:n.929del
ENST00000489225.5:n.283+36333del
ENST00000489819.5:n.175+7670del
ENST00000495262.5:c.353del	ENSP00000419411.1:p.Tyr118LeufsTer23
NM_145649.4:c.353del	NP_663624.1:p.Tyr118LeufsTer23
XM_005248999.2:c.122del	XP_005249056.1:p.Tyr41LeufsTer23
XM_006715052.2:c.353del	XP_006715115.1:p.Tyr118LeufsTer23
XM_006715053.2:c.353del	XP_006715116.1:p.Tyr118LeufsTer23
XM_011514465.1:c.353del	XP_011512767.1:p.Tyr118LeufsTer23
XM_011514467.1:c.122del	XP_011512769.1:p.Tyr41LeufsTer23
XM_011514468.1:c.353del	XP_011512770.1:p.Tyr118LeufsTer23
XR_926136.1:n.904del
XM_006715052.3:c.353del	XP_006715115.1:p.Tyr118LeufsTer23
XM_011514468.3:c.353del	XP_011512770.1:p.Tyr118LeufsTer23
XM_017010732.2:c.353del	XP_016866221.1:p.Tyr118LeufsTer23
XR_002956275.1:n.904del
XR_926136.2:n.902del
NM_001374747.1:c.353del	NP_001361676.1:p.Tyr118LeufsTer23
NM_145649.5:c.353del MANE Select	NP_663624.1:p.Tyr118LeufsTer23