Canonical Allele Identifier: CA231750

Gene: B3GALNT2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_152490.5:c.740G>A MANE Select	NP_689703.1:p.Gly247Glu
ENST00000366600.8:c.740G>A MANE Select	ENSP00000355559.3:p.Gly247Glu
NM_001277155.2:c.863G>A	NP_001264084.1:p.Gly288Glu
NM_001277155.3:c.863G>A	NP_001264084.1:p.Gly288Glu
NM_152490.4:c.740G>A	NP_689703.1:p.Gly247Glu
ENST00000313984.3:c.863G>A	ENSP00000315678.3:p.Gly288Glu
ENST00000366600.7:c.740G>A	ENSP00000355559.3:p.Gly247Glu
ENST00000462374.1:n.59G>A
ENST00000477694.6:n.1128G>A
ENST00000612859.4:c.*360G>A	ENSP00000481548.1:n.*360G>A
ENST00000675193.1:c.863G>A	ENSP00000502069.1:p.Gly288Glu
ENST00000675555.1:c.518G>A	ENSP00000501896.1:p.Gly173Glu
ENST00000676288.1:c.863G>A	ENSP00000502392.1:p.Gly288Glu
XM_005273071.3:c.740G>A	XP_005273128.1:p.Gly247Glu
XM_006711749.2:c.740G>A	XP_006711812.1:p.Gly247Glu
XM_006711749.3:c.740G>A	XP_006711812.1:p.Gly247Glu
XM_011544096.1:c.740G>A	XP_011542398.1:p.Gly247Glu
XM_011544097.1:c.740G>A	XP_011542399.1:p.Gly247Glu
XM_017000394.1:c.863G>A	XP_016855883.1:p.Gly288Glu
XM_017000395.1:c.863G>A	XP_016855884.1:p.Gly288Glu
XR_001736987.1:n.1028G>A
XR_001736988.1:n.1028G>A
XR_001736989.1:n.1028G>A
XR_001736990.1:n.911G>A