Canonical Allele Identifier: CA2651120109

Gene: B3GALNT2

Linked Data

• gnomAD v4: 1-235489039-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235489039G>T , CM000663.2:g.235489039G>T	GRCh38
NC_000001.10:g.235652344G>T , CM000663.1:g.235652344G>T	GRCh37
NC_000001.9:g.233718967G>T	NCBI36
NG_033219.2:g.20443C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.361+129C>A MANE Select	ENSP00000355559.3:n.361+129C>A
ENST00000675193.1:c.484+129C>A	ENSP00000502069.1:n.484+129C>A
ENST00000675555.1:c.139+129C>A	ENSP00000501896.1:n.139+129C>A
ENST00000676288.1:c.484+129C>A	ENSP00000502392.1:n.484+129C>A
ENST00000313984.3:c.484+129C>A	ENSP00000315678.3:n.484+129C>A
ENST00000366600.7:c.361+129C>A	ENSP00000355559.3:n.361+129C>A
ENST00000494378.1:n.434-4524C>A
ENST00000612859.4:c.261-4524C>A	ENSP00000481548.1:n.261-4524C>A
NM_001277155.2:c.484+129C>A	NP_001264084.1:n.484+129C>A
NM_152490.4:c.361+129C>A	NP_689703.1:n.361+129C>A
XM_005273071.3:c.361+129C>A	XP_005273128.1:n.361+129C>A
XM_006711749.2:c.361+129C>A	XP_006711812.1:n.361+129C>A
XM_011544096.1:c.361+129C>A	XP_011542398.1:n.361+129C>A
XM_011544097.1:c.361+129C>A	XP_011542399.1:n.361+129C>A
XM_006711749.3:c.361+129C>A	XP_006711812.1:n.361+129C>A
XM_017000394.1:c.484+129C>A	XP_016855883.1:n.484+129C>A
XM_017000395.1:c.484+129C>A	XP_016855884.1:n.484+129C>A
XR_001736987.1:n.649+129C>A
XR_001736988.1:n.649+129C>A
XR_001736989.1:n.649+129C>A
XR_001736990.1:n.532+129C>A
NM_152490.5:c.361+129C>A MANE Select	NP_689703.1:n.361+129C>A
NM_001277155.3:c.484+129C>A	NP_001264084.1:n.484+129C>A