Canonical Allele Identifier: CA1610029374

Gene: GCNT2

Linked Data

• dbSNP Id: rs1761376672

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529595_10529605del , CM000668.2:g.10529595_10529605del	GRCh38
NC_000006.11:g.10529828_10529838del , CM000668.1:g.10529828_10529838del	GRCh37
NC_000006.10:g.10637814_10637824del	NCBI36
NG_007469.3:g.42373_42383del

Transcript Alleles

HGVS	Amino-acid change
ENST00000397423.7:n.484+754_484+764del
ENST00000495262.7:c.684_694del MANE Select	ENSP00000419411.2:p.Thr229ProfsTer14
ENST00000379597.7:c.684_694del	ENSP00000368917.3:p.Thr229ProfsTer14
ENST00000397423.6:n.484+754_484+764del
ENST00000410107.5:c.67+20437_67+20447del	ENSP00000386321.1:n.67+20437_67+20447del
ENST00000474518.1:n.508+754_508+764del
ENST00000474983.5:n.1261_1271del
ENST00000475577.5:n.254+1935_254+1945del
ENST00000483204.1:n.1260_1270del
ENST00000489225.5:n.283+36664_283+36674del
ENST00000489819.5:n.175+8001_175+8011del
ENST00000495262.5:c.684_694del	ENSP00000419411.1:p.Thr229ProfsTer14
NM_145649.4:c.684_694del	NP_663624.1:p.Thr229ProfsTer14
XM_005248999.2:c.453_463del	XP_005249056.1:p.Thr152ProfsTer14
XM_006715052.2:c.684_694del	XP_006715115.1:p.Thr229ProfsTer14
XM_006715053.2:c.684_694del	XP_006715116.1:p.Thr229ProfsTer14
XM_011514465.1:c.684_694del	XP_011512767.1:p.Thr229ProfsTer14
XM_011514467.1:c.453_463del	XP_011512769.1:p.Thr152ProfsTer14
XM_011514468.1:c.684_694del	XP_011512770.1:p.Thr229ProfsTer14
XR_926136.1:n.1235_1245del
XM_006715052.3:c.684_694del	XP_006715115.1:p.Thr229ProfsTer14
XM_011514468.3:c.684_694del	XP_011512770.1:p.Thr229ProfsTer14
XM_017010732.2:c.684_694del	XP_016866221.1:p.Thr229ProfsTer14
XR_002956275.1:n.1235_1245del
XR_926136.2:n.1233_1243del
NM_001374747.1:c.684_694del	NP_001361676.1:p.Thr229ProfsTer14
NM_145649.5:c.684_694del MANE Select	NP_663624.1:p.Thr229ProfsTer14