Canonical Allele Identifier: CA231752

Gene: B3GALNT2

Linked Data

• ClinVar Variation Id: 41938
• ClinVar RCV Id: RCV000034848 ; RCV000119389
• dbSNP Id: rs367543074
• gnomAD v2: 1-235628992-C-T
• gnomAD v4: 1-235465675-C-T
• MyVariant Identifiers: chr1:g.235628992C>T (hg19) ; chr1:g.235465675C>T (hg38)
• PubMed: PMID:23453667

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235465675C>T , CM000663.2:g.235465675C>T	GRCh38
NC_000001.10:g.235628992C>T , CM000663.1:g.235628992C>T	GRCh37
NC_000001.9:g.233695615C>T	NCBI36
NG_033219.2:g.43807G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461994.2:n.125G>A
ENST00000366600.8:c.802G>A MANE Select	ENSP00000355559.3:p.Val268Met
ENST00000477694.6:n.1190G>A
ENST00000675193.1:c.925G>A	ENSP00000502069.1:p.Val309Met
ENST00000675555.1:c.580G>A	ENSP00000501896.1:p.Val194Met
ENST00000676288.1:c.925G>A	ENSP00000502392.1:p.Val309Met
ENST00000313984.3:c.925G>A	ENSP00000315678.3:p.Val309Met
ENST00000366600.7:c.802G>A	ENSP00000355559.3:p.Val268Met
ENST00000462374.1:n.121G>A
ENST00000477694.5:n.125G>A
ENST00000612859.4:c.*422G>A	ENSP00000481548.1:n.*422G>A
NM_001277155.2:c.925G>A	NP_001264084.1:p.Val309Met
NM_152490.4:c.802G>A	NP_689703.1:p.Val268Met
XM_005273071.3:c.802G>A	XP_005273128.1:p.Val268Met
XM_006711749.2:c.802G>A	XP_006711812.1:p.Val268Met
XM_011544096.1:c.802G>A	XP_011542398.1:p.Val268Met
XM_011544097.1:c.762+5175G>A	XP_011542399.1:n.762+5175G>A
XM_006711749.3:c.802G>A	XP_006711812.1:p.Val268Met
XM_017000394.1:c.925G>A	XP_016855883.1:p.Val309Met
XM_017000395.1:c.925G>A	XP_016855884.1:p.Val309Met
XR_001736987.1:n.1090G>A
XR_001736988.1:n.1050+5175G>A
XR_001736989.1:n.1050+5175G>A
XR_001736990.1:n.973G>A
NM_152490.5:c.802G>A MANE Select	NP_689703.1:p.Val268Met
NM_001277155.3:c.925G>A	NP_001264084.1:p.Val309Met