Linked Data
ClinVar Variation Id:
938545
ClinVar RCV Id:
RCV001207787
dbSNP Id:
rs1682820322
gnomAD v4:
1-235450315-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235450315G>A , CM000663.2:g.235450315G>A | GRCh38 |
| NC_000001.10:g.235613630G>A , CM000663.1:g.235613630G>A | GRCh37 |
| NC_000001.9:g.233680253G>A | NCBI36 |
| NG_009230.1:g.87903G>A | |
| NG_033219.2:g.59167C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366600.8:c.1394C>T (B3GALNT2) MANE Select | ENSP00000355559.3:p.Thr465Ile | |
| ENST00000642610.2:c.*1553G>A (TBCE) MANE Select | ENSP00000494796.1:n.*1553G>A | |
| ENST00000675193.1:c.*334C>T (B3GALNT2) | ENSP00000502069.1:n.*334C>T | |
| ENST00000675555.1:c.1172C>T (B3GALNT2) | ENSP00000501896.1:p.Thr391Ile | |
| ENST00000676288.1:c.*1042C>T (B3GALNT2) | ENSP00000502392.1:n.*1042C>T | |
| ENST00000366600.7:c.1394C>T (B3GALNT2) | ENSP00000355559.3:p.Thr465Ile | |
| NM_152490.4:c.1394C>T (B3GALNT2) | NP_689703.1:p.Thr465Ile | |
| XM_006711749.2:c.1394C>T (B3GALNT2) | XP_006711812.1:p.Thr465Ile | |
| XM_006711749.3:c.1394C>T (B3GALNT2) | XP_006711812.1:p.Thr465Ile | |
| XM_017000394.1:c.1517C>T (B3GALNT2) | XP_016855883.1:p.Thr506Ile | |
| XM_017000395.1:c.*70C>T (B3GALNT2) | XP_016855884.1:n.*70C>T | |
| XR_001736987.1:n.1498C>T (B3GALNT2) | ||
| XR_001736989.1:n.1419C>T (B3GALNT2) | ||
| XR_001736990.1:n.1381C>T (B3GALNT2) | ||
| NM_003193.5:c.*1553G>A (TBCE) MANE Select | NP_003184.1:n.*1553G>A | |
| NM_152490.5:c.1394C>T (B3GALNT2) MANE Select | NP_689703.1:p.Thr465Ile | |
| NM_001079515.3:c.*1553G>A (TBCE) | NP_001072983.1:n.*1553G>A | |
| NM_001287801.2:c.*1553G>A (TBCE) | NP_001274730.1:n.*1553G>A | |
| NM_001287802.2:c.*1553G>A (TBCE) | NP_001274731.1:n.*1553G>A |