Canonical Allele Identifier: CA2677293109

Gene: GCNT2

Linked Data

• gnomAD v4: 6-10529190-TGGGTTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529191_10529197del , CM000668.2:g.10529191_10529197del	GRCh38
NC_000006.11:g.10529424_10529430del , CM000668.1:g.10529424_10529430del	GRCh37
NC_000006.10:g.10637410_10637416del	NCBI36
NG_007469.3:g.41969_41975del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+350_484+356del
ENST00000483204.2:n.856_862del
ENST00000495262.7:c.280_286del MANE Select	ENSP00000419411.2:p.Gly94LeufsTer2
ENST00000379597.7:c.280_286del	ENSP00000368917.3:p.Gly94LeufsTer2
ENST00000397423.6:n.484+350_484+356del
ENST00000410107.5:c.67+20033_67+20039del	ENSP00000386321.1:n.67+20033_67+20039del
ENST00000474518.1:n.508+350_508+356del
ENST00000474983.5:n.857_863del
ENST00000475577.5:n.254+1531_254+1537del
ENST00000483204.1:n.856_862del
ENST00000489225.5:n.283+36260_283+36266del
ENST00000489819.5:n.175+7597_175+7603del
ENST00000495262.5:c.280_286del	ENSP00000419411.1:p.Gly94LeufsTer2
NM_145649.4:c.280_286del	NP_663624.1:p.Gly94LeufsTer2
XM_005248999.2:c.49_55del	XP_005249056.1:p.Gly17LeufsTer2
XM_006715052.2:c.280_286del	XP_006715115.1:p.Gly94LeufsTer2
XM_006715053.2:c.280_286del	XP_006715116.1:p.Gly94LeufsTer2
XM_011514465.1:c.280_286del	XP_011512767.1:p.Gly94LeufsTer2
XM_011514467.1:c.49_55del	XP_011512769.1:p.Gly17LeufsTer2
XM_011514468.1:c.280_286del	XP_011512770.1:p.Gly94LeufsTer2
XR_926136.1:n.831_837del
XM_006715052.3:c.280_286del	XP_006715115.1:p.Gly94LeufsTer2
XM_011514468.3:c.280_286del	XP_011512770.1:p.Gly94LeufsTer2
XM_017010732.2:c.280_286del	XP_016866221.1:p.Gly94LeufsTer2
XR_002956275.1:n.831_837del
XR_926136.2:n.829_835del
NM_001374747.1:c.280_286del	NP_001361676.1:p.Gly94LeufsTer2
NM_145649.5:c.280_286del MANE Select	NP_663624.1:p.Gly94LeufsTer2