Canonical Allele Identifier: CA1464744

Gene: B3GALNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235458706C>T , CM000663.2:g.235458706C>T	GRCh38
NC_000001.10:g.235622014C>T , CM000663.1:g.235622014C>T	GRCh37
NC_000001.9:g.233688637C>T	NCBI36
NG_033219.2:g.50776G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152490.5:c.922G>A MANE Select	NP_689703.1:p.Ala308Thr
ENST00000366600.8:c.922G>A MANE Select	ENSP00000355559.3:p.Ala308Thr
NM_152490.4:c.922G>A	NP_689703.1:p.Ala308Thr
ENST00000366600.7:c.922G>A	ENSP00000355559.3:p.Ala308Thr
ENST00000461994.2:n.245G>A
ENST00000462374.1:n.161-3022G>A
ENST00000477694.5:n.245G>A
ENST00000477694.6:n.1310G>A
ENST00000675193.1:c.1045G>A	ENSP00000502069.1:p.Ala349Thr
ENST00000675555.1:c.700G>A	ENSP00000501896.1:p.Ala234Thr
ENST00000676288.1:c.1045G>A	ENSP00000502392.1:p.Ala349Thr
XM_005273071.3:c.842-3022G>A	XP_005273128.1:n.842-3022G>A
XM_006711749.2:c.922G>A	XP_006711812.1:p.Ala308Thr
XM_006711749.3:c.922G>A	XP_006711812.1:p.Ala308Thr
XM_011544096.1:c.922G>A	XP_011542398.1:p.Ala308Thr
XM_011544097.1:c.763-3022G>A	XP_011542399.1:n.763-3022G>A
XM_017000394.1:c.1045G>A	XP_016855883.1:p.Ala349Thr
XM_017000395.1:c.1045G>A	XP_016855884.1:p.Ala349Thr
XR_001736987.1:n.1130-3022G>A
XR_001736988.1:n.1131G>A
XR_001736989.1:n.1051-3022G>A
XR_001736990.1:n.1013-3022G>A