Canonical Allele Identifier: CA1464649

Gene: B3GALNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235454250G>A , CM000663.2:g.235454250G>A	GRCh38
NC_000001.10:g.235617562G>A , CM000663.1:g.235617562G>A	GRCh37
NC_000001.9:g.233684185G>A	NCBI36
NG_033219.2:g.55232C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152490.5:c.1217C>T MANE Select	NP_689703.1:p.Ala406Val
ENST00000366600.8:c.1217C>T MANE Select	ENSP00000355559.3:p.Ala406Val
NM_152490.4:c.1217C>T	NP_689703.1:p.Ala406Val
ENST00000366600.7:c.1217C>T	ENSP00000355559.3:p.Ala406Val
ENST00000461994.2:n.540C>T
ENST00000477694.5:n.540C>T
ENST00000477694.6:n.1605C>T
ENST00000675193.1:c.*157C>T	ENSP00000502069.1:n.*157C>T
ENST00000675555.1:c.995C>T	ENSP00000501896.1:p.Ala332Val
ENST00000676288.1:c.1340C>T	ENSP00000502392.1:p.Ala447Val
XM_006711749.2:c.1217C>T	XP_006711812.1:p.Ala406Val
XM_006711749.3:c.1217C>T	XP_006711812.1:p.Ala406Val
XM_017000394.1:c.1340C>T	XP_016855883.1:p.Ala447Val
XM_017000395.1:c.1340C>T	XP_016855884.1:p.Ala447Val
XR_001736987.1:n.1321C>T
XR_001736989.1:n.1242C>T
XR_001736990.1:n.1204C>T