Canonical Allele Identifier: CA134064755
Gene: GCNT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10529572_10529573insT , CM000668.2:g.10529572_10529573insT GRCh38
NC_000006.11:g.10529805_10529806insT , CM000668.1:g.10529805_10529806insT GRCh37
NC_000006.10:g.10637791_10637792insT NCBI36
NG_007469.3:g.42350_42351insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000397423.7:n.484+731_484+732insT
ENST00000495262.7:c.661_662insT MANE Select ENSP00000419411.2:p.Pro221LeufsTer3
ENST00000379597.7:c.661_662insT ENSP00000368917.3:p.Pro221LeufsTer3
ENST00000397423.6:n.484+731_484+732insT
ENST00000410107.5:c.67+20414_67+20415insT ENSP00000386321.1:n.67+20414_67+20415insT
ENST00000474518.1:n.508+731_508+732insT
ENST00000474983.5:n.1238_1239insT
ENST00000475577.5:n.254+1912_254+1913insT
ENST00000483204.1:n.1237_1238insT
ENST00000489225.5:n.283+36641_283+36642insT
ENST00000489819.5:n.175+7978_175+7979insT
ENST00000495262.5:c.661_662insT ENSP00000419411.1:p.Pro221LeufsTer3
NM_145649.4:c.661_662insT NP_663624.1:p.Pro221LeufsTer3
XM_005248999.2:c.430_431insT XP_005249056.1:p.Pro144LeufsTer3
XM_006715052.2:c.661_662insT XP_006715115.1:p.Pro221LeufsTer3
XM_006715053.2:c.661_662insT XP_006715116.1:p.Pro221LeufsTer3
XM_011514465.1:c.661_662insT XP_011512767.1:p.Pro221LeufsTer3
XM_011514467.1:c.430_431insT XP_011512769.1:p.Pro144LeufsTer3
XM_011514468.1:c.661_662insT XP_011512770.1:p.Pro221LeufsTer3
XR_926136.1:n.1212_1213insT
XM_006715052.3:c.661_662insT XP_006715115.1:p.Pro221LeufsTer3
XM_011514468.3:c.661_662insT XP_011512770.1:p.Pro221LeufsTer3
XM_017010732.2:c.661_662insT XP_016866221.1:p.Pro221LeufsTer3
XR_002956275.1:n.1212_1213insT
XR_926136.2:n.1210_1211insT
NM_001374747.1:c.661_662insT NP_001361676.1:p.Pro221LeufsTer3
NM_145649.5:c.661_662insT MANE Select NP_663624.1:p.Pro221LeufsTer3