Canonical Allele Identifier: CA344954330

Gene: B3GALNT2 TBCE

Linked Data

• MyVariant Identifiers: chr1:g.235613613G>C (hg19) ; chr1:g.235450298G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235450298G>C , CM000663.2:g.235450298G>C	GRCh38
NC_000001.10:g.235613613G>C , CM000663.1:g.235613613G>C	GRCh37
NC_000001.9:g.233680236G>C	NCBI36
NG_009230.1:g.87886G>C
NG_033219.2:g.59184C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.1411C>G (B3GALNT2) MANE Select	ENSP00000355559.3:p.Leu471Val
ENST00000642610.2:c.*1536G>C (TBCE) MANE Select	ENSP00000494796.1:n.*1536G>C
ENST00000675193.1:c.*351C>G (B3GALNT2)	ENSP00000502069.1:n.*351C>G
ENST00000675555.1:c.1189C>G (B3GALNT2)	ENSP00000501896.1:p.Leu397Val
ENST00000676288.1:c.*1059C>G (B3GALNT2)	ENSP00000502392.1:n.*1059C>G
ENST00000366600.7:c.1411C>G (B3GALNT2)	ENSP00000355559.3:p.Leu471Val
NM_152490.4:c.1411C>G (B3GALNT2)	NP_689703.1:p.Leu471Val
XM_006711749.2:c.1411C>G (B3GALNT2)	XP_006711812.1:p.Leu471Val
XM_006711749.3:c.1411C>G (B3GALNT2)	XP_006711812.1:p.Leu471Val
XM_017000394.1:c.1534C>G (B3GALNT2)	XP_016855883.1:p.Leu512Val
XM_017000395.1:c.*87C>G (B3GALNT2)	XP_016855884.1:n.*87C>G
XR_001736987.1:n.1515C>G (B3GALNT2)
XR_001736989.1:n.1436C>G (B3GALNT2)
XR_001736990.1:n.1398C>G (B3GALNT2)
NM_003193.5:c.*1536G>C (TBCE) MANE Select	NP_003184.1:n.*1536G>C
NM_152490.5:c.1411C>G (B3GALNT2) MANE Select	NP_689703.1:p.Leu471Val
NM_001079515.3:c.*1536G>C (TBCE)	NP_001072983.1:n.*1536G>C
NM_001287801.2:c.*1536G>C (TBCE)	NP_001274730.1:n.*1536G>C
NM_001287802.2:c.*1536G>C (TBCE)	NP_001274731.1:n.*1536G>C