Canonical Allele Identifier: CA344961016

Gene: B3GALNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235465692T>G , CM000663.2:g.235465692T>G	GRCh38
NC_000001.10:g.235629009T>G , CM000663.1:g.235629009T>G	GRCh37
NC_000001.9:g.233695632T>G	NCBI36
NG_033219.2:g.43790A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_152490.5:c.785A>C MANE Select	NP_689703.1:p.His262Pro
ENST00000366600.8:c.785A>C MANE Select	ENSP00000355559.3:p.His262Pro
NM_001277155.2:c.908A>C	NP_001264084.1:p.His303Pro
NM_001277155.3:c.908A>C	NP_001264084.1:p.His303Pro
NM_152490.4:c.785A>C	NP_689703.1:p.His262Pro
ENST00000313984.3:c.908A>C	ENSP00000315678.3:p.His303Pro
ENST00000366600.7:c.785A>C	ENSP00000355559.3:p.His262Pro
ENST00000461994.2:n.108A>C
ENST00000462374.1:n.104A>C
ENST00000477694.5:n.108A>C
ENST00000477694.6:n.1173A>C
ENST00000612859.4:c.*405A>C	ENSP00000481548.1:n.*405A>C
ENST00000675193.1:c.908A>C	ENSP00000502069.1:p.His303Pro
ENST00000675555.1:c.563A>C	ENSP00000501896.1:p.His188Pro
ENST00000676288.1:c.908A>C	ENSP00000502392.1:p.His303Pro
XM_005273071.3:c.785A>C	XP_005273128.1:p.His262Pro
XM_006711749.2:c.785A>C	XP_006711812.1:p.His262Pro
XM_006711749.3:c.785A>C	XP_006711812.1:p.His262Pro
XM_011544096.1:c.785A>C	XP_011542398.1:p.His262Pro
XM_011544097.1:c.762+5158A>C	XP_011542399.1:n.762+5158A>C
XM_017000394.1:c.908A>C	XP_016855883.1:p.His303Pro
XM_017000395.1:c.908A>C	XP_016855884.1:p.His303Pro
XR_001736987.1:n.1073A>C
XR_001736988.1:n.1050+5158A>C
XR_001736989.1:n.1050+5158A>C
XR_001736990.1:n.956A>C