Linked Data
ClinVar Variation Id:
13357
ClinVar RCV Id:
RCV000014285
dbSNP Id:
rs796065035
MyVariant Identifiers:
chr2:g.25384350_25384351dupCC (hg19)
chr2:g.25384349_25384350insCC (hg19)
chr2:g.25161481_25161482dupCC (hg38)
chr2:g.25161480_25161481insCC (hg38)
PubMed:
PMID:14557433
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25161482_25161483dup , CM000664.2:g.25161482_25161483dup | GRCh38 |
| NC_000002.11:g.25384351_25384352dup , CM000664.1:g.25384351_25384352dup | GRCh37 |
| NC_000002.10:g.25237855_25237856dup | NCBI36 |
| NG_008997.1:g.12209_12210dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395826.7:c.403_404dup MANE Select | ENSP00000379170.2:p.Lys136AlafsTer23 | |
| ENST00000264708.7:c.403_404dup | ENSP00000264708.3:p.Lys136AlafsTer23 | |
| ENST00000380794.5:c.403_404dup | ENSP00000370171.1:p.Lys136AlafsTer23 | |
| ENST00000395826.6:c.403_404dup | ENSP00000379170.2:p.Lys136AlafsTer23 | |
| ENST00000405623.5:c.403_404dup | ENSP00000384092.1:p.Lys136AlafsTer23 | |
| ENST00000449220.1:c.403_404dup | ENSP00000387993.1:p.Lys136AlafsTer23 | |
| NM_000939.2:c.403_404dup | NP_000930.1:p.Lys136AlafsTer23 | |
| NM_001035256.1:c.403_404dup | NP_001030333.1:p.Lys136AlafsTer23 | |
| XM_011532917.1:c.403_404dup | XP_011531219.1:p.Lys136AlafsTer23 | |
| NM_000939.3:c.403_404dup | NP_000930.1:p.Lys136AlafsTer23 | |
| NM_001035256.2:c.403_404dup | NP_001030333.1:p.Lys136AlafsTer23 | |
| NM_001319204.1:c.403_404dup | NP_001306133.1:p.Lys136AlafsTer23 | |
| NM_001319205.1:c.403_404dup | NP_001306134.1:p.Lys136AlafsTer23 | |
| NM_000939.4:c.403_404dup MANE Select | NP_000930.1:p.Lys136AlafsTer23 | |
| NM_001319204.2:c.403_404dup | NP_001306133.1:p.Lys136AlafsTer23 | |
| NM_001319205.2:c.403_404dup | NP_001306134.1:p.Lys136AlafsTer23 | |
| NM_001035256.3:c.403_404dup | NP_001030333.1:p.Lys136AlafsTer23 |