Canonical Allele Identifier: CA344958036

Gene: B3GALNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235455641C>G , CM000663.2:g.235455641C>G	GRCh38
NC_000001.10:g.235618953C>G , CM000663.1:g.235618953C>G	GRCh37
NC_000001.9:g.233685576C>G	NCBI36
NG_033219.2:g.53841G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_152490.5:c.1069G>C MANE Select	NP_689703.1:p.Asp357His
ENST00000366600.8:c.1069G>C MANE Select	ENSP00000355559.3:p.Asp357His
NM_152490.4:c.1069G>C	NP_689703.1:p.Asp357His
ENST00000366600.7:c.1069G>C	ENSP00000355559.3:p.Asp357His
ENST00000461994.2:n.392G>C
ENST00000462374.1:n.204G>C
ENST00000477694.5:n.392G>C
ENST00000477694.6:n.1457G>C
ENST00000675193.1:c.*9G>C	ENSP00000502069.1:n.*9G>C
ENST00000675555.1:c.847G>C	ENSP00000501896.1:p.Asp283His
ENST00000676288.1:c.1192G>C	ENSP00000502392.1:p.Asp398His
XM_005273071.3:c.*9G>C	XP_005273128.1:n.*9G>C
XM_006711749.2:c.1069G>C	XP_006711812.1:p.Asp357His
XM_006711749.3:c.1069G>C	XP_006711812.1:p.Asp357His
XM_011544096.1:c.*9G>C	XP_011542398.1:n.*9G>C
XM_011544097.1:c.806G>C	XP_011542399.1:p.Ter269Ser
XM_017000394.1:c.1192G>C	XP_016855883.1:p.Asp398His
XM_017000395.1:c.1192G>C	XP_016855884.1:p.Asp398His
XR_001736987.1:n.1173G>C
XR_001736988.1:n.1278G>C
XR_001736989.1:n.1094G>C
XR_001736990.1:n.1056G>C