Linked Data
ClinVar Variation Id:
557529
ClinVar RCV Id:
RCV000673682
dbSNP Id:
rs781088670
ExAC:
2:211473116 GC / G
gnomAD v2:
2-211473116-GC-G
gnomAD v4:
2-210608392-GC-G
MyVariant Identifiers:
chr2:g.211473117del (hg19)
chr2:g.210608395del (hg38)
chr2:g.210608393del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210608395del , CM000664.2:g.210608395del | GRCh38 |
| NC_000002.11:g.211473119del , CM000664.1:g.211473119del | GRCh37 |
| NC_000002.10:g.211181364del | NCBI36 |
| NG_008285.1:g.135711del , LRG_336:g.135711del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233072.10:c.2227del MANE Select | ENSP00000233072.5:p.Leu743Ter | |
| ENST00000430249.7:c.2245del | ENSP00000402608.2:p.Leu749Ter | |
| ENST00000451903.3:c.874del | ENSP00000406136.2:p.Leu292Ter | |
| ENST00000673510.1:c.2227del | ENSP00000500537.1:p.Leu743Ter | |
| ENST00000673630.1:c.2227del | ENSP00000501073.1:p.Leu743Ter | |
| ENST00000673698.1:c.707del | ||
| ENST00000673711.1:c.2227del | ENSP00000501022.1:p.Leu743Ter | |
| ENST00000674074.1:n.1372del | ||
| ENST00000233072.9:c.2227del | ENSP00000233072.5:p.Leu743Ter | |
| ENST00000430249.6:c.2245del | ENSP00000402608.2:p.Leu749Ter | |
| ENST00000451903.2:c.874del | ENSP00000406136.2:p.Leu292Ter | |
| NM_001122633.2:c.2245del | NP_001116105.1:p.Leu749Ter | |
| NM_001122634.3:c.874del | NP_001116106.1:p.Leu292Ter | |
| NM_001875.4:c.2227del , LRG_336t1:c.2227del | NP_001866.2:p.Leu743Ter | |
| XM_011510640.1:c.2260del | XP_011508942.1:p.Leu754Ter | |
| XM_011510641.1:c.2227del | XP_011508943.1:p.Leu743Ter | |
| XM_011510642.1:c.2227del | XP_011508944.1:p.Leu743Ter | |
| XM_011510643.1:c.2227del | XP_011508945.1:p.Leu743Ter | |
| XM_011510644.1:c.2227del | XP_011508946.1:p.Leu743Ter | |
| NM_001122633.3:c.2227del | NP_001116105.2:p.Leu743Ter | |
| NM_001369256.1:c.2260del | NP_001356185.1:p.Leu754Ter | |
| NM_001369257.1:c.2227del | NP_001356186.1:p.Leu743Ter | |
| NM_001875.5:c.2227del MANE Select | NP_001866.2:p.Leu743Ter | |
| NR_161225.1:n.3136del | ||
| NR_163592.1:n.1383del |