Canonical Allele Identifier: CA344955985

Gene: B3GALNT2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235453089C>T , CM000663.2:g.235453089C>T	GRCh38
NC_000001.10:g.235616401C>T , CM000663.1:g.235616401C>T	GRCh37
NC_000001.9:g.233683024C>T	NCBI36
NG_033219.2:g.56393G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.1368+1G>A MANE Select	ENSP00000355559.3:n.1368+1G>A
ENST00000675193.1:c.*308+1G>A	ENSP00000502069.1:n.*308+1G>A
ENST00000675555.1:c.1146+1G>A	ENSP00000501896.1:n.1146+1G>A
ENST00000676288.1:c.1491+1G>A	ENSP00000502392.1:n.1491+1G>A
ENST00000366600.7:c.1368+1G>A	ENSP00000355559.3:n.1368+1G>A
NM_152490.4:c.1368+1G>A	NP_689703.1:n.1368+1G>A
XM_006711749.2:c.1368+1G>A	XP_006711812.1:n.1368+1G>A
XM_006711749.3:c.1368+1G>A	XP_006711812.1:n.1368+1G>A
XM_017000394.1:c.1491+1G>A	XP_016855883.1:n.1491+1G>A
XM_017000395.1:c.*44+1G>A	XP_016855884.1:n.*44+1G>A
XR_001736987.1:n.1472+1G>A
XR_001736989.1:n.1393+1G>A
XR_001736990.1:n.1355+1G>A
NM_152490.5:c.1368+1G>A MANE Select	NP_689703.1:n.1368+1G>A