Canonical Allele Identifier: CA344928661

Gene: B3GALNT2

Linked Data

• MyVariant Identifiers: chr1:g.235652548C>T (hg19) ; chr1:g.235489243C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235489243C>T , CM000663.2:g.235489243C>T	GRCh38
NC_000001.10:g.235652548C>T , CM000663.1:g.235652548C>T	GRCh37
NC_000001.9:g.233719171C>T	NCBI36
NG_033219.2:g.20239G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.286G>A MANE Select	ENSP00000355559.3:p.Ala96Thr
ENST00000675193.1:c.409G>A	ENSP00000502069.1:p.Ala137Thr
ENST00000675555.1:c.64G>A	ENSP00000501896.1:p.Ala22Thr
ENST00000676288.1:c.409G>A	ENSP00000502392.1:p.Ala137Thr
ENST00000313984.3:c.409G>A	ENSP00000315678.3:p.Ala137Thr
ENST00000366600.7:c.286G>A	ENSP00000355559.3:p.Ala96Thr
ENST00000494378.1:n.434-4728G>A
ENST00000612859.4:c.261-4728G>A	ENSP00000481548.1:n.261-4728G>A
NM_001277155.2:c.409G>A	NP_001264084.1:p.Ala137Thr
NM_152490.4:c.286G>A	NP_689703.1:p.Ala96Thr
XM_005273071.3:c.286G>A	XP_005273128.1:p.Ala96Thr
XM_006711749.2:c.286G>A	XP_006711812.1:p.Ala96Thr
XM_011544096.1:c.286G>A	XP_011542398.1:p.Ala96Thr
XM_011544097.1:c.286G>A	XP_011542399.1:p.Ala96Thr
XM_006711749.3:c.286G>A	XP_006711812.1:p.Ala96Thr
XM_017000394.1:c.409G>A	XP_016855883.1:p.Ala137Thr
XM_017000395.1:c.409G>A	XP_016855884.1:p.Ala137Thr
XR_001736987.1:n.574G>A
XR_001736988.1:n.574G>A
XR_001736989.1:n.574G>A
XR_001736990.1:n.457G>A
NM_152490.5:c.286G>A MANE Select	NP_689703.1:p.Ala96Thr
NM_001277155.3:c.409G>A	NP_001264084.1:p.Ala137Thr