Canonical Allele Identifier: CA658795618

Gene: B3GALNT2

Linked Data

• ClinVar Variation Id: 540913
• ClinVar RCV Id: RCV000651070
• dbSNP Id: rs1553342786
• MyVariant Identifiers: chr1:g.235617556del (hg19) ; chr1:g.235454244del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235454246del , CM000663.2:g.235454246del	GRCh38
NC_000001.10:g.235617558del , CM000663.1:g.235617558del	GRCh37
NC_000001.9:g.233684181del	NCBI36
NG_033219.2:g.55238del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461994.2:n.546del
ENST00000366600.8:c.1223del MANE Select	ENSP00000355559.3:p.Pro408LeufsTer10
ENST00000477694.6:n.1611del
ENST00000675193.1:c.*163del	ENSP00000502069.1:n.*163del
ENST00000675555.1:c.1001del	ENSP00000501896.1:p.Pro334LeufsTer10
ENST00000676288.1:c.1346del	ENSP00000502392.1:p.Pro449LeufsTer10
ENST00000366600.7:c.1223del	ENSP00000355559.3:p.Pro408LeufsTer10
ENST00000477694.5:n.546del
NM_152490.4:c.1223del	NP_689703.1:p.Pro408LeufsTer10
XM_006711749.2:c.1223del	XP_006711812.1:p.Pro408LeufsTer10
XM_006711749.3:c.1223del	XP_006711812.1:p.Pro408LeufsTer10
XM_017000394.1:c.1346del	XP_016855883.1:p.Pro449LeufsTer10
XM_017000395.1:c.1346del	XP_016855884.1:p.Pro449LeufsTer10
XR_001736987.1:n.1327del
XR_001736989.1:n.1248del
XR_001736990.1:n.1210del
NM_152490.5:c.1223del MANE Select	NP_689703.1:p.Pro408LeufsTer10