Linked Data
dbSNP Id:
rs770384265
ExAC:
1:235613640 A / C
gnomAD v2:
1-235613640-A-C
gnomAD v4:
1-235450325-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235450325A>C , CM000663.2:g.235450325A>C | GRCh38 |
| NC_000001.10:g.235613640A>C , CM000663.1:g.235613640A>C | GRCh37 |
| NC_000001.9:g.233680263A>C | NCBI36 |
| NG_009230.1:g.87913A>C | |
| NG_033219.2:g.59157T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366600.8:c.1384T>G (B3GALNT2) MANE Select | ENSP00000355559.3:p.Cys462Gly | |
| ENST00000642610.2:c.*1563A>C (TBCE) MANE Select | ENSP00000494796.1:n.*1563A>C | |
| ENST00000675193.1:c.*324T>G (B3GALNT2) | ENSP00000502069.1:n.*324T>G | |
| ENST00000675555.1:c.1162T>G (B3GALNT2) | ENSP00000501896.1:p.Cys388Gly | |
| ENST00000676288.1:c.*1032T>G (B3GALNT2) | ENSP00000502392.1:n.*1032T>G | |
| ENST00000366600.7:c.1384T>G (B3GALNT2) | ENSP00000355559.3:p.Cys462Gly | |
| NM_152490.4:c.1384T>G (B3GALNT2) | NP_689703.1:p.Cys462Gly | |
| XM_006711749.2:c.1384T>G (B3GALNT2) | XP_006711812.1:p.Cys462Gly | |
| XM_006711749.3:c.1384T>G (B3GALNT2) | XP_006711812.1:p.Cys462Gly | |
| XM_017000394.1:c.1507T>G (B3GALNT2) | XP_016855883.1:p.Cys503Gly | |
| XM_017000395.1:c.*60T>G (B3GALNT2) | XP_016855884.1:n.*60T>G | |
| XR_001736987.1:n.1488T>G (B3GALNT2) | ||
| XR_001736989.1:n.1409T>G (B3GALNT2) | ||
| XR_001736990.1:n.1371T>G (B3GALNT2) | ||
| NM_003193.5:c.*1563A>C (TBCE) MANE Select | NP_003184.1:n.*1563A>C | |
| NM_152490.5:c.1384T>G (B3GALNT2) MANE Select | NP_689703.1:p.Cys462Gly | |
| NM_001079515.3:c.*1563A>C (TBCE) | NP_001072983.1:n.*1563A>C | |
| NM_001287801.2:c.*1563A>C (TBCE) | NP_001274730.1:n.*1563A>C | |
| NM_001287802.2:c.*1563A>C (TBCE) | NP_001274731.1:n.*1563A>C |