Canonical Allele Identifier: CA1464575

Gene: B3GALNT2 TBCE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235450235C>T , CM000663.2:g.235450235C>T	GRCh38
NC_000001.10:g.235613550C>T , CM000663.1:g.235613550C>T	GRCh37
NC_000001.9:g.233680173C>T	NCBI36
NG_009230.1:g.87823C>T
NG_033219.2:g.59247G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003193.5:c.*1473C>T (TBCE) MANE Select	NP_003184.1:n.*1473C>T
NM_152490.5:c.1474G>A (B3GALNT2) MANE Select	NP_689703.1:p.Gly492Ser
ENST00000366600.8:c.1474G>A (B3GALNT2) MANE Select	ENSP00000355559.3:p.Gly492Ser
ENST00000642610.2:c.*1473C>T (TBCE) MANE Select	ENSP00000494796.1:n.*1473C>T
NM_001079515.3:c.*1473C>T (TBCE)	NP_001072983.1:n.*1473C>T
NM_001287801.2:c.*1473C>T (TBCE)	NP_001274730.1:n.*1473C>T
NM_001287802.2:c.*1473C>T (TBCE)	NP_001274731.1:n.*1473C>T
NM_152490.4:c.1474G>A (B3GALNT2)	NP_689703.1:p.Gly492Ser
ENST00000366600.7:c.1474G>A (B3GALNT2)	ENSP00000355559.3:p.Gly492Ser
ENST00000675193.1:c.*414G>A (B3GALNT2)	ENSP00000502069.1:n.*414G>A
ENST00000675555.1:c.1252G>A (B3GALNT2)	ENSP00000501896.1:p.Gly418Ser
ENST00000676288.1:c.*1122G>A (B3GALNT2)	ENSP00000502392.1:n.*1122G>A
XM_006711749.2:c.1469+5G>A (B3GALNT2)	XP_006711812.1:n.1469+5G>A
XM_006711749.3:c.1469+5G>A (B3GALNT2)	XP_006711812.1:n.1469+5G>A
XM_017000394.1:c.1597G>A (B3GALNT2)	XP_016855883.1:p.Gly533Ser
XM_017000395.1:c.*150G>A (B3GALNT2)	XP_016855884.1:n.*150G>A
XR_001736987.1:n.1578G>A (B3GALNT2)
XR_001736989.1:n.1499G>A (B3GALNT2)
XR_001736990.1:n.1461G>A (B3GALNT2)