Linked Data
dbSNP Id:
rs773604635
ExAC:
2:136558350 A / AG
gnomAD v2:
2-136558350-A-AG
gnomAD v4:
2-135800780-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135800785dup , CM000664.2:g.135800785dup | GRCh38 |
| NC_000002.11:g.136558355dup , CM000664.1:g.136558355dup | GRCh37 |
| NC_000002.10:g.136274825dup | NCBI36 |
| NG_008104.2:g.59389dup , LRG_338:g.59389dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.4692dup MANE Select | ENSP00000264162.2:p.Tyr1565LeufsTer13 | |
| ENST00000264162.6:c.4692dup | ENSP00000264162.2:p.Tyr1565LeufsTer13 | |
| ENST00000452974.1:c.2960-2643dup | ENSP00000391231.1:n.2960-2643dup | |
| NM_002299.2:c.4692dup , LRG_338t1:c.4692dup | NP_002290.2:p.Tyr1565LeufsTer13 | |
| NM_002299.3:c.4692dup | NP_002290.2:p.Tyr1565LeufsTer13 | |
| XM_017004088.2:c.4692dup | XP_016859577.1:p.Tyr1565LeufsTer13 | |
| NM_002299.4:c.4692dup MANE Select | NP_002290.2:p.Tyr1565LeufsTer13 |