Canonical Allele Identifier: CA423773589

Gene: B3GALNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235454174C>T , CM000663.2:g.235454174C>T	GRCh38
NC_000001.10:g.235617486C>T , CM000663.1:g.235617486C>T	GRCh37
NC_000001.9:g.233684109C>T	NCBI36
NG_033219.2:g.55308G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152490.5:c.1293G>A MANE Select	NP_689703.1:p.Gly431=
ENST00000366600.8:c.1293G>A MANE Select	ENSP00000355559.3:p.Gly431=
NM_152490.4:c.1293G>A	NP_689703.1:p.Gly431=
ENST00000366600.7:c.1293G>A	ENSP00000355559.3:p.Gly431=
ENST00000477694.6:n.1681G>A
ENST00000675193.1:c.*233G>A	ENSP00000502069.1:n.*233G>A
ENST00000675555.1:c.1071G>A	ENSP00000501896.1:p.Gly357=
ENST00000676288.1:c.1416G>A	ENSP00000502392.1:p.Gly472=
XM_006711749.2:c.1293G>A	XP_006711812.1:p.Gly431=
XM_006711749.3:c.1293G>A	XP_006711812.1:p.Gly431=
XM_017000394.1:c.1416G>A	XP_016855883.1:p.Gly472=
XM_017000395.1:c.1416G>A	XP_016855884.1:p.Gly472=
XR_001736987.1:n.1397G>A
XR_001736989.1:n.1318G>A
XR_001736990.1:n.1280G>A