Canonical Allele Identifier: CA1610029472
Gene: GCNT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10529660T= , CM000668.2:g.10529660T= GRCh38
NC_000006.11:g.10529893T= , CM000668.1:g.10529893T= GRCh37
NC_000006.10:g.10637879T= NCBI36
NG_007469.3:g.42438T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000397423.7:n.484+819T=
ENST00000495262.7:c.749T= MANE Select ENSP00000419411.2:p.Leu250=
ENST00000379597.7:c.749T= ENSP00000368917.3:p.Leu250=
ENST00000397423.6:n.484+819T=
ENST00000410107.5:c.67+20502T= ENSP00000386321.1:n.67+20502T=
ENST00000474518.1:n.508+819T=
ENST00000474983.5:n.1326T=
ENST00000475577.5:n.254+2000T=
ENST00000483204.1:n.1325T=
ENST00000489225.5:n.283+36729T=
ENST00000489819.5:n.175+8066T=
ENST00000495262.5:c.749T= ENSP00000419411.1:p.Leu250=
NM_145649.4:c.749T= NP_663624.1:p.Leu250=
XM_005248999.2:c.518T= XP_005249056.1:p.Leu173=
XM_006715052.2:c.749T= XP_006715115.1:p.Leu250=
XM_006715053.2:c.749T= XP_006715116.1:p.Leu250=
XM_011514465.1:c.749T= XP_011512767.1:p.Leu250=
XM_011514467.1:c.518T= XP_011512769.1:p.Leu173=
XM_011514468.1:c.749T= XP_011512770.1:p.Leu250=
XR_926136.1:n.1300T=
XM_006715052.3:c.749T= XP_006715115.1:p.Leu250=
XM_011514468.3:c.749T= XP_011512770.1:p.Leu250=
XM_017010732.2:c.749T= XP_016866221.1:p.Leu250=
XR_002956275.1:n.1300T=
XR_926136.2:n.1298T=
NM_001374747.1:c.749T= NP_001361676.1:p.Leu250=
NM_145649.5:c.749T= MANE Select NP_663624.1:p.Leu250=