Linked Data
ClinVar Variation Id:
548685
dbSNP Id:
rs10714063
ExAC:
2:203378398 CT / C
gnomAD v2:
2-203378398-CT-C
gnomAD v3:
2-202513675-CT-C
gnomAD v4:
2-202513675-CT-C
MyVariant Identifiers:
chr2:g.203378399del (hg19)
chr2:g.202513677del (hg38)
chr2:g.202513676del (hg38)
ERepo:
CA2061113/MONDO:0015924/125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202513681del , CM000664.2:g.202513681del | GRCh38 |
| NC_000002.11:g.203378404del , CM000664.1:g.203378404del | GRCh37 |
| NC_000002.10:g.203086649del | NCBI36 |
| NG_009363.1:g.142355del , LRG_712:g.142355del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.419-38del MANE Select | ENSP00000363708.4:n.419-38del | |
| ENST00000638587.1:c.350-38del | ENSP00000491062.1:n.350-38del | |
| ENST00000374574.2:c.419-38del | ENSP00000363702.2:n.419-38del | |
| ENST00000374580.8:c.419-38del | ENSP00000363708.4:n.419-38del | |
| NM_001204.6:c.419-38del , LRG_712t1:c.419-38del | NP_001195.2:n.419-38del | |
| XM_011511687.1:c.419-38del | XP_011509989.1:n.419-38del | |
| XM_011511688.1:c.419-38del | XP_011509990.1:n.419-38del | |
| NM_001204.7:c.419-38del MANE Select | NP_001195.2:n.419-38del |