Canonical Allele Identifier: CA344930753

Gene: B3GALNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235494684T>G , CM000663.2:g.235494684T>G	GRCh38
NC_000001.10:g.235657994T>G , CM000663.1:g.235657994T>G	GRCh37
NC_000001.9:g.233724617T>G	NCBI36
NG_033219.2:g.14798A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_152490.5:c.257A>C MANE Select	NP_689703.1:p.Gln86Pro
ENST00000366600.8:c.257A>C MANE Select	ENSP00000355559.3:p.Gln86Pro
NM_001277155.2:c.380A>C	NP_001264084.1:p.Gln127Pro
NM_001277155.3:c.380A>C	NP_001264084.1:p.Gln127Pro
NM_152490.4:c.257A>C	NP_689703.1:p.Gln86Pro
ENST00000313984.3:c.380A>C	ENSP00000315678.3:p.Gln127Pro
ENST00000366600.7:c.257A>C	ENSP00000355559.3:p.Gln86Pro
ENST00000494378.1:n.430A>C
ENST00000612859.4:c.257A>C	ENSP00000481548.1:p.Gln86Pro
ENST00000675193.1:c.380A>C	ENSP00000502069.1:p.Gln127Pro
ENST00000675555.1:c.35A>C	ENSP00000501896.1:p.Gln12Pro
ENST00000676288.1:c.380A>C	ENSP00000502392.1:p.Gln127Pro
XM_005273071.3:c.257A>C	XP_005273128.1:p.Gln86Pro
XM_006711749.2:c.257A>C	XP_006711812.1:p.Gln86Pro
XM_006711749.3:c.257A>C	XP_006711812.1:p.Gln86Pro
XM_011544096.1:c.257A>C	XP_011542398.1:p.Gln86Pro
XM_011544097.1:c.257A>C	XP_011542399.1:p.Gln86Pro
XM_017000394.1:c.380A>C	XP_016855883.1:p.Gln127Pro
XM_017000395.1:c.380A>C	XP_016855884.1:p.Gln127Pro
XR_001736987.1:n.545A>C
XR_001736988.1:n.545A>C
XR_001736989.1:n.545A>C
XR_001736990.1:n.428A>C