Linked Data
ClinVar Variation Id:
204178
ClinVar RCV Id:
RCV000186385
dbSNP Id:
rs180177183
MyVariant Identifiers:
chr2:g.241808642_241808648dupTCACACT (hg19)
chr2:g.240869225_240869231dupTCACACT (hg38)
PubMed:
PMID:10862087
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869225_240869231dup , CM000664.2:g.240869225_240869231dup | GRCh38 |
| NC_000002.11:g.241808642_241808648dup , CM000664.1:g.241808642_241808648dup | GRCh37 |
| NC_000002.10:g.241457315_241457321dup | NCBI36 |
| NG_008005.1:g.5481_5487dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.221_227dup MANE Select | ENSP00000302620.3:p.Val77HisfsTer? | |
| ENST00000307503.3:c.221_227dup | ENSP00000302620.3:p.Val77HisfsTer? | |
| ENST00000472436.1:n.241_247dup | ||
| NM_000030.2:c.221_227dup | NP_000021.1:p.Val77HisfsTer? | |
| XR_924060.1:n.405+1002_405+1008dup | ||
| NM_000030.3:c.221_227dup MANE Select | NP_000021.1:p.Val77HisfsTer? |