Canonical Allele Identifier: CA1464953
Gene: B3GALNT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 968878
ClinVar RCV Id: RCV001244113
dbSNP Id: rs371613038

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235489261C>A , CM000663.2:g.235489261C>A GRCh38
NC_000001.10:g.235652566C>A , CM000663.1:g.235652566C>A GRCh37
NC_000001.9:g.233719189C>A NCBI36
NG_033219.2:g.20221G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366600.8:c.268G>T MANE Select ENSP00000355559.3:p.Val90Leu
ENST00000675193.1:c.391G>T ENSP00000502069.1:p.Val131Leu
ENST00000675555.1:c.46G>T ENSP00000501896.1:p.Val16Leu
ENST00000676288.1:c.391G>T ENSP00000502392.1:p.Val131Leu
ENST00000313984.3:c.391G>T ENSP00000315678.3:p.Val131Leu
ENST00000366600.7:c.268G>T ENSP00000355559.3:p.Val90Leu
ENST00000494378.1:n.434-4746G>T
ENST00000612859.4:c.261-4746G>T ENSP00000481548.1:n.261-4746G>T
NM_001277155.2:c.391G>T NP_001264084.1:p.Val131Leu
NM_152490.4:c.268G>T NP_689703.1:p.Val90Leu
XM_005273071.3:c.268G>T XP_005273128.1:p.Val90Leu
XM_006711749.2:c.268G>T XP_006711812.1:p.Val90Leu
XM_011544096.1:c.268G>T XP_011542398.1:p.Val90Leu
XM_011544097.1:c.268G>T XP_011542399.1:p.Val90Leu
XM_006711749.3:c.268G>T XP_006711812.1:p.Val90Leu
XM_017000394.1:c.391G>T XP_016855883.1:p.Val131Leu
XM_017000395.1:c.391G>T XP_016855884.1:p.Val131Leu
XR_001736987.1:n.556G>T
XR_001736988.1:n.556G>T
XR_001736989.1:n.556G>T
XR_001736990.1:n.439G>T
NM_152490.5:c.268G>T MANE Select NP_689703.1:p.Val90Leu
NM_001277155.3:c.391G>T NP_001264084.1:p.Val131Leu