Canonical Allele Identifier: CA1085909137

Gene: GCNT2

Linked Data

• dbSNP Id: rs1761355040
• gnomAD v3: 6-10529259-GATTTATATGCCCCAAA-G
• gnomAD v4: 6-10529259-GATTTATATGCCCCAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529262_10529277del , CM000668.2:g.10529262_10529277del	GRCh38
NC_000006.11:g.10529495_10529510del , CM000668.1:g.10529495_10529510del	GRCh37
NC_000006.10:g.10637481_10637496del	NCBI36
NG_007469.3:g.42040_42055del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+421_484+436del
ENST00000483204.2:n.927_942del
ENST00000495262.7:c.351_366del MANE Select	ENSP00000419411.2:p.Ile117MetfsTer19
ENST00000379597.7:c.351_366del	ENSP00000368917.3:p.Ile117MetfsTer19
ENST00000397423.6:n.484+421_484+436del
ENST00000410107.5:c.67+20104_67+20119del	ENSP00000386321.1:n.67+20104_67+20119del
ENST00000474518.1:n.508+421_508+436del
ENST00000474983.5:n.928_943del
ENST00000475577.5:n.254+1602_254+1617del
ENST00000483204.1:n.927_942del
ENST00000489225.5:n.283+36331_283+36346del
ENST00000489819.5:n.175+7668_175+7683del
ENST00000495262.5:c.351_366del	ENSP00000419411.1:p.Ile117MetfsTer19
NM_145649.4:c.351_366del	NP_663624.1:p.Ile117MetfsTer19
XM_005248999.2:c.120_135del	XP_005249056.1:p.Ile40MetfsTer19
XM_006715052.2:c.351_366del	XP_006715115.1:p.Ile117MetfsTer19
XM_006715053.2:c.351_366del	XP_006715116.1:p.Ile117MetfsTer19
XM_011514465.1:c.351_366del	XP_011512767.1:p.Ile117MetfsTer19
XM_011514467.1:c.120_135del	XP_011512769.1:p.Ile40MetfsTer19
XM_011514468.1:c.351_366del	XP_011512770.1:p.Ile117MetfsTer19
XR_926136.1:n.902_917del
XM_006715052.3:c.351_366del	XP_006715115.1:p.Ile117MetfsTer19
XM_011514468.3:c.351_366del	XP_011512770.1:p.Ile117MetfsTer19
XM_017010732.2:c.351_366del	XP_016866221.1:p.Ile117MetfsTer19
XR_002956275.1:n.902_917del
XR_926136.2:n.900_915del
NM_001374747.1:c.351_366del	NP_001361676.1:p.Ile117MetfsTer19
NM_145649.5:c.351_366del MANE Select	NP_663624.1:p.Ile117MetfsTer19