Linked Data
ClinVar Variation Id:
180280
ClinVar RCV Id:
RCV000157119
RCV000181039
RCV000471850
RCV000776056
RCV001262209
RCV001837464
RCV002362835
RCV004535019
dbSNP Id:
rs541497967
ExAC:
2:21233098 CTCA / C
gnomAD v2:
2-21233098-CTCA-C
gnomAD v3:
2-21010226-CTCA-C
gnomAD v4:
2-21010226-CTCA-C
MyVariant Identifiers:
chr2:g.21233099_21233101del (hg19)
chr2:g.21010228_21010230del (hg38)
chr2:g.21010227_21010229del (hg38)
PubMed:
PMID:26036859
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21010230_21010232del , CM000664.2:g.21010230_21010232del | GRCh38 |
| NC_000002.11:g.21233102_21233104del , CM000664.1:g.21233102_21233104del | GRCh37 |
| NC_000002.10:g.21086607_21086609del | NCBI36 |
| NG_011793.1:g.38845_38847del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.6639_6641del MANE Select | ENSP00000233242.1:p.Asp2213del | |
| ENST00000616098.4:c.6639_6641del | ENSP00000477990.1:p.Asp2213del | |
| NM_000384.2:c.6639_6641del | NP_000375.2:p.Asp2213del | |
| XM_011532809.1:c.5869+504_5869+506del | XP_011531111.1:n.5869+504_5869+506del | |
| NM_000384.3:c.6639_6641del MANE Select | NP_000375.3:p.Asp2213del |