Canonical Allele Identifier: CA130931

Gene: B3GALNT2 TBCE

Linked Data

• ClinVar Variation Id: 41939
• ClinVar RCV Id: RCV000034849 ; RCV000119383
• dbSNP Id: rs367543077
• gnomAD v4: 1-235450286-G-A
• MyVariant Identifiers: chr1:g.235613601G>A (hg19) ; chr1:g.235450286G>A (hg38)
• PubMed: PMID:23453667

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235450286G>A , CM000663.2:g.235450286G>A	GRCh38
NC_000001.10:g.235613601G>A , CM000663.1:g.235613601G>A	GRCh37
NC_000001.9:g.233680224G>A	NCBI36
NG_009230.1:g.87874G>A
NG_033219.2:g.59196C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366600.8:c.1423C>T (B3GALNT2) MANE Select	ENSP00000355559.3:p.Gln475Ter
ENST00000642610.2:c.*1524G>A (TBCE) MANE Select	ENSP00000494796.1:n.*1524G>A
ENST00000675193.1:c.*363C>T (B3GALNT2)	ENSP00000502069.1:n.*363C>T
ENST00000675555.1:c.1201C>T (B3GALNT2)	ENSP00000501896.1:p.Gln401Ter
ENST00000676288.1:c.*1071C>T (B3GALNT2)	ENSP00000502392.1:n.*1071C>T
ENST00000366600.7:c.1423C>T (B3GALNT2)	ENSP00000355559.3:p.Gln475Ter
NM_152490.4:c.1423C>T (B3GALNT2)	NP_689703.1:p.Gln475Ter
XM_006711749.2:c.1423C>T (B3GALNT2)	XP_006711812.1:p.Gln475Ter
XM_006711749.3:c.1423C>T (B3GALNT2)	XP_006711812.1:p.Gln475Ter
XM_017000394.1:c.1546C>T (B3GALNT2)	XP_016855883.1:p.Gln516Ter
XM_017000395.1:c.*99C>T (B3GALNT2)	XP_016855884.1:n.*99C>T
XR_001736987.1:n.1527C>T (B3GALNT2)
XR_001736989.1:n.1448C>T (B3GALNT2)
XR_001736990.1:n.1410C>T (B3GALNT2)
NM_003193.5:c.*1524G>A (TBCE) MANE Select	NP_003184.1:n.*1524G>A
NM_152490.5:c.1423C>T (B3GALNT2) MANE Select	NP_689703.1:p.Gln475Ter
NM_001079515.3:c.*1524G>A (TBCE)	NP_001072983.1:n.*1524G>A
NM_001287801.2:c.*1524G>A (TBCE)	NP_001274730.1:n.*1524G>A
NM_001287802.2:c.*1524G>A (TBCE)	NP_001274731.1:n.*1524G>A