Linked Data
dbSNP Id:
rs754349082
ExAC:
2:29293879 AG / A
gnomAD v2:
2-29293879-AG-A
gnomAD v3:
2-29071013-AG-A
gnomAD v4:
2-29071013-AG-A
MyVariant Identifiers:
chr2:g.29293881del (hg19)
chr2:g.29293880del (hg19)
chr2:g.29071015del (hg38)
chr2:g.29071014del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071019del , CM000664.2:g.29071019del | GRCh38 |
| NC_000002.11:g.29293885del , CM000664.1:g.29293885del | GRCh37 |
| NC_000002.10:g.29147389del | NCBI36 |
| NG_021427.1:g.8248del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3248del MANE Select | ENSP00000332809.4:p.Pro1083LeufsTer30 | |
| ENST00000331664.5:c.3248del | ENSP00000332809.4:p.Pro1083LeufsTer30 | |
| NM_001029883.2:c.3248del | NP_001025054.1:p.Pro1083LeufsTer30 | |
| XM_011532826.1:c.3248del | XP_011531128.1:p.Pro1083LeufsTer30 | |
| XR_939901.1:n.185+1852del | ||
| XR_939902.1:n.173+1864del | ||
| NM_001029883.3:c.3248del MANE Select | NP_001025054.1:p.Pro1083LeufsTer30 |