Canonical Allele Identifier: CA1143538503
Community Standard Title: NM_152490.5(B3GALNT2):c.740G= (p.Gly247=)
Gene: B3GALNT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235470872C= , CM000663.2:g.235470872C= GRCh38
NC_000001.10:g.235634186C= , CM000663.1:g.235634186C= GRCh37
NC_000001.9:g.233700809C= NCBI36
NG_033219.2:g.38610G=

Transcript Alleles

HGVS Amino-acid Change
NM_152490.5:c.740G= MANE Select NP_689703.1:p.Gly247=
ENST00000366600.8:c.740G= MANE Select ENSP00000355559.3:p.Gly247=
NM_001277155.2:c.863G= NP_001264084.1:p.Gly288=
NM_001277155.3:c.863G= NP_001264084.1:p.Gly288=
NM_152490.4:c.740G= NP_689703.1:p.Gly247=
ENST00000313984.3:c.863G= ENSP00000315678.3:p.Gly288=
ENST00000366600.7:c.740G= ENSP00000355559.3:p.Gly247=
ENST00000462374.1:n.59G=
ENST00000477694.6:n.1128G=
ENST00000612859.4:c.*360G= ENSP00000481548.1:n.*360G=
ENST00000675193.1:c.863G= ENSP00000502069.1:p.Gly288=
ENST00000675555.1:c.518G= ENSP00000501896.1:p.Gly173=
ENST00000676288.1:c.863G= ENSP00000502392.1:p.Gly288=
XM_005273071.3:c.740G= XP_005273128.1:p.Gly247=
XM_006711749.2:c.740G= XP_006711812.1:p.Gly247=
XM_006711749.3:c.740G= XP_006711812.1:p.Gly247=
XM_011544096.1:c.740G= XP_011542398.1:p.Gly247=
XM_011544097.1:c.740G= XP_011542399.1:p.Gly247=
XM_017000394.1:c.863G= XP_016855883.1:p.Gly288=
XM_017000395.1:c.863G= XP_016855884.1:p.Gly288=
XR_001736987.1:n.1028G=
XR_001736988.1:n.1028G=
XR_001736989.1:n.1028G=
XR_001736990.1:n.911G=