Canonical Allele Identifier: CA1464597

Gene: B3GALNT2 TBCE

Linked Data

• dbSNP Id: rs770384265
• ExAC: 1:235613640 A / C
• gnomAD v2: 1-235613640-A-C
• gnomAD v4: 1-235450325-A-C
• MyVariant Identifiers: chr1:g.235613640A>C (hg19) ; chr1:g.235450325A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235450325A>C , CM000663.2:g.235450325A>C	GRCh38
NC_000001.10:g.235613640A>C , CM000663.1:g.235613640A>C	GRCh37
NC_000001.9:g.233680263A>C	NCBI36
NG_009230.1:g.87913A>C
NG_033219.2:g.59157T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.1384T>G (B3GALNT2) MANE Select	ENSP00000355559.3:p.Cys462Gly
ENST00000642610.2:c.*1563A>C (TBCE) MANE Select	ENSP00000494796.1:n.*1563A>C
ENST00000675193.1:c.*324T>G (B3GALNT2)	ENSP00000502069.1:n.*324T>G
ENST00000675555.1:c.1162T>G (B3GALNT2)	ENSP00000501896.1:p.Cys388Gly
ENST00000676288.1:c.*1032T>G (B3GALNT2)	ENSP00000502392.1:n.*1032T>G
ENST00000366600.7:c.1384T>G (B3GALNT2)	ENSP00000355559.3:p.Cys462Gly
NM_152490.4:c.1384T>G (B3GALNT2)	NP_689703.1:p.Cys462Gly
XM_006711749.2:c.1384T>G (B3GALNT2)	XP_006711812.1:p.Cys462Gly
XM_006711749.3:c.1384T>G (B3GALNT2)	XP_006711812.1:p.Cys462Gly
XM_017000394.1:c.1507T>G (B3GALNT2)	XP_016855883.1:p.Cys503Gly
XM_017000395.1:c.*60T>G (B3GALNT2)	XP_016855884.1:n.*60T>G
XR_001736987.1:n.1488T>G (B3GALNT2)
XR_001736989.1:n.1409T>G (B3GALNT2)
XR_001736990.1:n.1371T>G (B3GALNT2)
NM_003193.5:c.*1563A>C (TBCE) MANE Select	NP_003184.1:n.*1563A>C
NM_152490.5:c.1384T>G (B3GALNT2) MANE Select	NP_689703.1:p.Cys462Gly
NM_001079515.3:c.*1563A>C (TBCE)	NP_001072983.1:n.*1563A>C
NM_001287801.2:c.*1563A>C (TBCE)	NP_001274730.1:n.*1563A>C
NM_001287802.2:c.*1563A>C (TBCE)	NP_001274731.1:n.*1563A>C