Canonical Allele Identifier: CA39604257

Gene: B3GALNT2 TBCE

Linked Data

• dbSNP Id: rs947476664
• gnomAD v2: 1-235613650-A-T
• MyVariant Identifiers: chr1:g.235613650A>T (hg19) ; chr1:g.235450335A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235450335A>T , CM000663.2:g.235450335A>T	GRCh38
NC_000001.10:g.235613650A>T , CM000663.1:g.235613650A>T	GRCh37
NC_000001.9:g.233680273A>T	NCBI36
NG_009230.1:g.87923A>T
NG_033219.2:g.59147T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.1374T>A (B3GALNT2) MANE Select	ENSP00000355559.3:p.Ser458Arg
ENST00000642610.2:c.*1573A>T (TBCE) MANE Select	ENSP00000494796.1:n.*1573A>T
ENST00000675193.1:c.*314T>A (B3GALNT2)	ENSP00000502069.1:n.*314T>A
ENST00000675555.1:c.1152T>A (B3GALNT2)	ENSP00000501896.1:p.Ser384Arg
ENST00000676288.1:c.*1022T>A (B3GALNT2)	ENSP00000502392.1:n.*1022T>A
ENST00000366600.7:c.1374T>A (B3GALNT2)	ENSP00000355559.3:p.Ser458Arg
NM_152490.4:c.1374T>A (B3GALNT2)	NP_689703.1:p.Ser458Arg
XM_006711749.2:c.1374T>A (B3GALNT2)	XP_006711812.1:p.Ser458Arg
XM_006711749.3:c.1374T>A (B3GALNT2)	XP_006711812.1:p.Ser458Arg
XM_017000394.1:c.1497T>A (B3GALNT2)	XP_016855883.1:p.Ser499Arg
XM_017000395.1:c.*50T>A (B3GALNT2)	XP_016855884.1:n.*50T>A
XR_001736987.1:n.1478T>A (B3GALNT2)
XR_001736989.1:n.1399T>A (B3GALNT2)
XR_001736990.1:n.1361T>A (B3GALNT2)
NM_003193.5:c.*1573A>T (TBCE) MANE Select	NP_003184.1:n.*1573A>T
NM_152490.5:c.1374T>A (B3GALNT2) MANE Select	NP_689703.1:p.Ser458Arg
NM_001079515.3:c.*1573A>T (TBCE)	NP_001072983.1:n.*1573A>T
NM_001287801.2:c.*1573A>T (TBCE)	NP_001274730.1:n.*1573A>T
NM_001287802.2:c.*1573A>T (TBCE)	NP_001274731.1:n.*1573A>T