Linked Data
ClinVar Variation Id:
12951
dbSNP Id:
rs587776778
ExAC:
2:234243724 CA / C
gnomAD v2:
2-234243724-CA-C
gnomAD v3:
2-233335078-CA-C
gnomAD v4:
2-233335078-CA-C
MyVariant Identifiers:
chr2:g.234243727del (hg19)
chr2:g.234243725del (hg19)
chr2:g.233335081del (hg38)
chr2:g.233335079del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233335081del , CM000664.2:g.233335081del | GRCh38 |
| NC_000002.11:g.234243727del , CM000664.1:g.234243727del | GRCh37 |
| NC_000002.10:g.233908466del | NCBI36 |
| NG_009116.1:g.32419del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409110.6:c.926del MANE Select | ENSP00000386444.1:p.Asn309ThrfsTer12 | |
| ENST00000409110.5:c.926del | ENSP00000386444.1:p.Asn309ThrfsTer12 | |
| ENST00000412969.6:n.2146del | ||
| ENST00000469222.5:n.943del | ||
| ENST00000471884.5:n.2957del | ||
| ENST00000473771.1:n.366del | ||
| ENST00000476500.5:n.6225del | ||
| ENST00000483231.5:n.310del | ||
| NM_000541.4:c.926del | NP_000532.2:p.Asn309ThrfsTer12 | |
| XM_011511589.1:c.926del | XP_011509891.1:p.Asn309ThrfsTer12 | |
| XM_011511590.1:c.926del | XP_011509892.1:p.Asn309ThrfsTer12 | |
| XM_011511591.1:c.926del | XP_011509893.1:p.Asn309ThrfsTer12 | |
| XM_011511592.1:c.770del | XP_011509894.1:p.Asn257ThrfsTer12 | |
| XM_011511593.1:c.626del | XP_011509895.1:p.Asn209ThrfsTer12 | |
| XM_011511594.1:c.554del | XP_011509896.1:p.Asn185ThrfsTer12 | |
| XM_011511596.1:c.524del | XP_011509898.1:p.Asn175ThrfsTer12 | |
| XM_011511597.1:c.524del | XP_011509899.1:p.Asn175ThrfsTer12 | |
| XR_922978.1:n.1122del | ||
| XR_922979.1:n.1122del | ||
| XR_922980.1:n.1221del | ||
| XM_011511593.3:c.626del | XP_011509895.1:p.Asn209ThrfsTer12 | |
| XM_017004641.1:c.926del | XP_016860130.1:p.Asn309ThrfsTer12 | |
| XM_017004642.1:c.926del | XP_016860131.1:p.Asn309ThrfsTer12 | |
| XM_024453036.1:c.524del | XP_024308804.1:p.Asn175ThrfsTer12 | |
| XR_001738882.1:n.1003del | ||
| XR_922980.2:n.1221del | ||
| NM_000541.5:c.926del MANE Select | NP_000532.2:p.Asn309ThrfsTer12 |