Canonical Allele Identifier: CA344954327

Gene: B3GALNT2 TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235613610A>C (hg19) ; chr1:g.235450295A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235450295A>C , CM000663.2:g.235450295A>C	GRCh38
NC_000001.10:g.235613610A>C , CM000663.1:g.235613610A>C	GRCh37
NC_000001.9:g.233680233A>C	NCBI36
NG_009230.1:g.87883A>C
NG_033219.2:g.59187T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.1414T>G (B3GALNT2) MANE Select	ENSP00000355559.3:p.Ser472Ala
ENST00000642610.2:c.*1533A>C (TBCE) MANE Select	ENSP00000494796.1:n.*1533A>C
ENST00000675193.1:c.*354T>G (B3GALNT2)	ENSP00000502069.1:n.*354T>G
ENST00000675555.1:c.1192T>G (B3GALNT2)	ENSP00000501896.1:p.Ser398Ala
ENST00000676288.1:c.*1062T>G (B3GALNT2)	ENSP00000502392.1:n.*1062T>G
ENST00000366600.7:c.1414T>G (B3GALNT2)	ENSP00000355559.3:p.Ser472Ala
NM_152490.4:c.1414T>G (B3GALNT2)	NP_689703.1:p.Ser472Ala
XM_006711749.2:c.1414T>G (B3GALNT2)	XP_006711812.1:p.Ser472Ala
XM_006711749.3:c.1414T>G (B3GALNT2)	XP_006711812.1:p.Ser472Ala
XM_017000394.1:c.1537T>G (B3GALNT2)	XP_016855883.1:p.Ser513Ala
XM_017000395.1:c.*90T>G (B3GALNT2)	XP_016855884.1:n.*90T>G
XR_001736987.1:n.1518T>G (B3GALNT2)
XR_001736989.1:n.1439T>G (B3GALNT2)
XR_001736990.1:n.1401T>G (B3GALNT2)
NM_003193.5:c.*1533A>C (TBCE) MANE Select	NP_003184.1:n.*1533A>C
NM_152490.5:c.1414T>G (B3GALNT2) MANE Select	NP_689703.1:p.Ser472Ala
NM_001079515.3:c.*1533A>C (TBCE)	NP_001072983.1:n.*1533A>C
NM_001287801.2:c.*1533A>C (TBCE)	NP_001274730.1:n.*1533A>C
NM_001287802.2:c.*1533A>C (TBCE)	NP_001274731.1:n.*1533A>C