Linked Data
ClinVar Variation Id:
5874
ClinVar RCV Id:
RCV000006232
dbSNP Id:
rs869025178
MyVariant Identifiers:
chr2:g.88890091dupA (hg19)
chr2:g.88890090_88890091insA (hg19)
chr2:g.88590573dupA (hg38)
chr2:g.88590572_88590573insA (hg38)
PubMed:
PMID:10932183
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88590574dup , CM000664.2:g.88590574dup | GRCh38 |
| NC_000002.11:g.88890092dup , CM000664.1:g.88890092dup | GRCh37 |
| NC_000002.10:g.88671207dup | NCBI36 |
| NG_016424.1:g.42004dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681996.1:n.2226dup | ||
| ENST00000682276.1:n.490dup | ||
| ENST00000682892.1:c.582dup | ENSP00000507214.1:p.Lys195Ter | |
| ENST00000682952.1:n.674dup | ||
| ENST00000684455.1:c.248dup | ||
| ENST00000684642.1:c.432dup | ENSP00000507355.1:p.Lys145Ter | |
| ENST00000303236.9:c.1035dup MANE Select | ENSP00000307235.3:p.Lys346Ter | |
| ENST00000652099.1:c.1229dup | ||
| ENST00000652736.1:n.911dup | ||
| ENST00000303236.7:c.1035dup | ENSP00000307235.3:p.Lys346Ter | |
| ENST00000415570.1:c.672dup | ENSP00000412076.1:p.Lys225Ter | |
| ENST00000419748.5:c.582dup | ENSP00000408325.1:p.Lys195Ter | |
| NM_001313915.1:c.582dup | NP_001300844.1:p.Lys195Ter | |
| NM_004836.5:c.1035dup | NP_004827.4:p.Lys346Ter | |
| NM_004836.6:c.1035dup | NP_004827.4:p.Lys346Ter | |
| XM_005264649.3:c.351dup | XP_005264706.1:p.Lys118Ter | |
| XR_939749.1:n.1244dup | ||
| XM_017005376.2:c.351dup | XP_016860865.1:p.Lys118Ter | |
| NM_004836.7:c.1035dup MANE Select | NP_004827.4:p.Lys346Ter | |
| NM_001313915.2:c.582dup | NP_001300844.1:p.Lys195Ter |