Canonical Allele Identifier: CA448718439
Gene: GCNT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10557183del , CM000668.2:g.10557183del GRCh38
NC_000006.11:g.10557416del , CM000668.1:g.10557416del GRCh37
NC_000006.10:g.10665402del NCBI36
NG_007469.3:g.69961del

Transcript Alleles

HGVS Amino-acid Change
NM_145649.5:c.925+27347del MANE Select NP_663624.1:n.925+27347del
ENST00000495262.7:c.925+27347del MANE Select ENSP00000419411.2:n.925+27347del
NM_001491.3:c.760del MANE Plus Clinical NP_001482.1:p.His254IlefsTer?
ENST00000316170.9:c.760del MANE Plus Clinical ENSP00000314844.3:p.His254IlefsTer?
NM_001374747.1:c.925+27347del NP_001361676.1:n.925+27347del
NM_001491.2:c.760del NP_001482.1:p.His254IlefsTer?
NM_145649.4:c.925+27347del NP_663624.1:n.925+27347del
ENST00000316170.7:c.760del ENSP00000314844.3:p.His254IlefsTer?
ENST00000379597.7:c.925+27347del ENSP00000368917.3:n.925+27347del
ENST00000397423.6:n.484+28342del
ENST00000397423.7:n.484+28342del
ENST00000410107.5:c.67+48025del ENSP00000386321.1:n.67+48025del
ENST00000459872.1:n.383del
ENST00000461400.1:n.25+27347del
ENST00000474518.1:n.508+28342del
ENST00000475577.5:n.254+29523del
ENST00000485764.1:n.40+27347del
ENST00000489225.5:n.284-64168del
ENST00000489819.5:n.175+35589del
ENST00000495262.5:c.925+27347del ENSP00000419411.1:n.925+27347del
ENST00000640968.1:c.760del ENSP00000492466.1:p.His254IlefsTer?
XM_005248997.2:c.760del XP_005249054.1:p.His254IlefsTer?
XM_005248997.3:c.760del XP_005249054.1:p.His254IlefsTer?
XM_005248999.2:c.694+27347del XP_005249056.1:n.694+27347del
XM_006715052.2:c.925+27347del XP_006715115.1:n.925+27347del
XM_006715052.3:c.925+27347del XP_006715115.1:n.925+27347del
XM_011514465.1:c.926-15947del XP_011512767.1:n.926-15947del
XM_011514467.1:c.694+27347del XP_011512769.1:n.694+27347del
XR_002956275.1:n.1476+27347del
XR_926136.1:n.1476+27347del
XR_926136.2:n.1474+27347del