Canonical Allele Identifier: CA344931056

Gene: B3GALNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235494726C>T , CM000663.2:g.235494726C>T	GRCh38
NC_000001.10:g.235658036C>T , CM000663.1:g.235658036C>T	GRCh37
NC_000001.9:g.233724659C>T	NCBI36
NG_033219.2:g.14756G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152490.5:c.215G>A MANE Select	NP_689703.1:p.Ser72Asn
ENST00000366600.8:c.215G>A MANE Select	ENSP00000355559.3:p.Ser72Asn
NM_001277155.2:c.338G>A	NP_001264084.1:p.Ser113Asn
NM_001277155.3:c.338G>A	NP_001264084.1:p.Ser113Asn
NM_152490.4:c.215G>A	NP_689703.1:p.Ser72Asn
ENST00000313984.3:c.338G>A	ENSP00000315678.3:p.Ser113Asn
ENST00000366600.7:c.215G>A	ENSP00000355559.3:p.Ser72Asn
ENST00000494378.1:n.388G>A
ENST00000612859.4:c.215G>A	ENSP00000481548.1:p.Ser72Asn
ENST00000675193.1:c.338G>A	ENSP00000502069.1:p.Ser113Asn
ENST00000675555.1:c.-8G>A	ENSP00000501896.1:n.-8G>A
ENST00000676288.1:c.338G>A	ENSP00000502392.1:p.Ser113Asn
XM_005273071.3:c.215G>A	XP_005273128.1:p.Ser72Asn
XM_006711749.2:c.215G>A	XP_006711812.1:p.Ser72Asn
XM_006711749.3:c.215G>A	XP_006711812.1:p.Ser72Asn
XM_011544096.1:c.215G>A	XP_011542398.1:p.Ser72Asn
XM_011544097.1:c.215G>A	XP_011542399.1:p.Ser72Asn
XM_017000394.1:c.338G>A	XP_016855883.1:p.Ser113Asn
XM_017000395.1:c.338G>A	XP_016855884.1:p.Ser113Asn
XR_001736987.1:n.503G>A
XR_001736988.1:n.503G>A
XR_001736989.1:n.503G>A
XR_001736990.1:n.386G>A