Linked Data
ClinVar Variation Id:
1599530
ClinVar RCV Id:
RCV002129823
dbSNP Id:
rs766664373
ExAC:
2:202490731 AT / A
gnomAD v2:
2-202490731-AT-A
gnomAD v3:
2-201626008-AT-A
gnomAD v4:
2-201626008-AT-A
MyVariant Identifiers:
chr2:g.202490732del (hg19)
chr2:g.201626010del (hg38)
chr2:g.201626009del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201626016del , CM000664.2:g.201626016del | GRCh38 |
| NC_000002.11:g.202490739del , CM000664.1:g.202490739del | GRCh37 |
| NC_000002.10:g.202198984del | NCBI36 |
| NG_032049.1:g.22521del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471318.6:n.955+17del | ||
| ENST00000621467.5:c.1033+17del | ENSP00000480508.2:n.1033+17del | |
| ENST00000686475.1:n.1099+17del | ||
| ENST00000409883.7:c.1159+17del MANE Select | ENSP00000386264.2:n.1159+17del | |
| ENST00000286196.9:c.*723+17del | ENSP00000286196.5:n.*723+17del | |
| ENST00000409444.6:c.1135+17del | ENSP00000387203.2:n.1135+17del | |
| ENST00000409883.6:c.1159+17del | ENSP00000386264.2:n.1159+17del | |
| ENST00000471318.5:n.387+17del | ||
| ENST00000495329.1:n.298+17del | ||
| ENST00000621467.4:c.1135+17del | ENSP00000480508.1:n.1135+17del | |
| NM_001044385.2:c.1159+17del | NP_001037850.1:n.1159+17del | |
| NM_152388.3:c.1135+17del | NP_689601.2:n.1135+17del | |
| NM_001044385.3:c.1159+17del MANE Select | NP_001037850.1:n.1159+17del | |
| NM_152388.4:c.1135+17del | NP_689601.2:n.1135+17del |