Canonical Allele Identifier: CA231751

Gene: B3GALNT2

Linked Data

• ClinVar Variation Id: 41937
• ClinVar RCV Id: RCV000034847 ; RCV000119388
• dbSNP Id: rs367543073
• MyVariant Identifiers: chr1:g.235634171A>C (hg19) ; chr1:g.235470857A>C (hg38)
• PubMed: PMID:23453667

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235470857A>C , CM000663.2:g.235470857A>C	GRCh38
NC_000001.10:g.235634171A>C , CM000663.1:g.235634171A>C	GRCh37
NC_000001.9:g.233700794A>C	NCBI36
NG_033219.2:g.38625T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.755T>G MANE Select	ENSP00000355559.3:p.Val252Gly
ENST00000477694.6:n.1143T>G
ENST00000675193.1:c.878T>G	ENSP00000502069.1:p.Val293Gly
ENST00000675555.1:c.533T>G	ENSP00000501896.1:p.Val178Gly
ENST00000676288.1:c.878T>G	ENSP00000502392.1:p.Val293Gly
ENST00000313984.3:c.878T>G	ENSP00000315678.3:p.Val293Gly
ENST00000366600.7:c.755T>G	ENSP00000355559.3:p.Val252Gly
ENST00000462374.1:n.74T>G
ENST00000612859.4:c.*375T>G	ENSP00000481548.1:n.*375T>G
NM_001277155.2:c.878T>G	NP_001264084.1:p.Val293Gly
NM_152490.4:c.755T>G	NP_689703.1:p.Val252Gly
XM_005273071.3:c.755T>G	XP_005273128.1:p.Val252Gly
XM_006711749.2:c.755T>G	XP_006711812.1:p.Val252Gly
XM_011544096.1:c.755T>G	XP_011542398.1:p.Val252Gly
XM_011544097.1:c.755T>G	XP_011542399.1:p.Val252Gly
XM_006711749.3:c.755T>G	XP_006711812.1:p.Val252Gly
XM_017000394.1:c.878T>G	XP_016855883.1:p.Val293Gly
XM_017000395.1:c.878T>G	XP_016855884.1:p.Val293Gly
XR_001736987.1:n.1043T>G
XR_001736988.1:n.1043T>G
XR_001736989.1:n.1043T>G
XR_001736990.1:n.926T>G
NM_152490.5:c.755T>G MANE Select	NP_689703.1:p.Val252Gly
NM_001277155.3:c.878T>G	NP_001264084.1:p.Val293Gly