Linked Data
dbSNP Id:
rs587780033
gnomAD v4:
2-214781250-CT-C
MyVariant Identifiers:
chr2:g.215645975del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214781257del , CM000664.2:g.214781257del | GRCh38 |
| NC_000002.11:g.215645981del , CM000664.1:g.215645981del | GRCh37 |
| NC_000002.10:g.215354226del | NCBI36 |
| NG_012047.2:g.33454del | |
| NG_012047.3:g.33461del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260947.9:c.623del MANE Select | ENSP00000260947.4:p.Lys208ArgfsTer4 | |
| ENST00000421162.2:c.215+15810del | ENSP00000392245.2:n.215+15810del | |
| ENST00000613192.2:c.158+28161del | ENSP00000483275.2:n.158+28161del | |
| ENST00000613374.5:c.158+28161del | ENSP00000484464.1:n.158+28161del | |
| ENST00000613706.5:c.623del | ENSP00000484976.2:p.Lys208ArgfsTer4 | |
| ENST00000617164.5:c.566del | ENSP00000480470.1:p.Lys189ArgfsTer4 | |
| ENST00000619009.5:c.364+11046del | ENSP00000482293.1:n.364+11046del | |
| ENST00000650978.1:c.465del | ||
| ENST00000260947.8:c.623del | ENSP00000260947.4:p.Lys208ArgfsTer4 | |
| ENST00000421162.1:c.215+15810del | ENSP00000392245.1:n.215+15810del | |
| ENST00000455743.5:c.*243del | ENSP00000412186.1:n.*243del | |
| ENST00000471787.1:n.518del | ||
| ENST00000613192.1:c.73+28161del | ENSP00000483275.1:n.73+28161del | |
| ENST00000613374.4:c.158+28161del | ENSP00000484464.1:n.158+28161del | |
| ENST00000613706.4:c.215+15810del | ENSP00000484976.1:n.215+15810del | |
| ENST00000617164.4:c.566del | ENSP00000480470.1:p.Lys189ArgfsTer4 | |
| ENST00000619009.4:c.364+11046del | ENSP00000482293.1:n.364+11046del | |
| ENST00000620057.4:c.364+11046del | ENSP00000481988.1:n.364+11046del | |
| NM_000465.3:c.623del | NP_000456.2:p.Lys208ArgfsTer4 | |
| NM_001282543.1:c.566del | NP_001269472.1:p.Lys189ArgfsTer4 | |
| NM_001282545.1:c.215+15810del | NP_001269474.1:n.215+15810del | |
| NM_001282548.1:c.158+28161del | NP_001269477.1:n.158+28161del | |
| NM_001282549.1:c.364+11046del | NP_001269478.1:n.364+11046del | |
| NR_104212.1:n.616del | ||
| NR_104215.1:n.559del | ||
| NR_104216.1:n.506+11046del | ||
| XM_011511567.1:c.569del | XP_011509869.1:p.Lys190ArgfsTer4 | |
| XM_011511568.1:c.623del | XP_011509870.1:p.Lys208ArgfsTer4 | |
| XM_017004613.1:c.722del | XP_016860102.1:p.Lys241ArgfsTer4 | |
| XM_017004614.1:c.722del | XP_016860103.1:p.Lys241ArgfsTer4 | |
| XR_002959322.1:n.813del | ||
| NM_000465.4:c.623del MANE Select | NP_000456.2:p.Lys208ArgfsTer4 | |
| NM_001282543.2:c.566del | NP_001269472.1:p.Lys189ArgfsTer4 | |
| NM_001282545.2:c.215+15810del | NP_001269474.1:n.215+15810del | |
| NM_001282548.2:c.158+28161del | NP_001269477.1:n.158+28161del | |
| NM_001282549.2:c.364+11046del | NP_001269478.1:n.364+11046del | |
| NR_104212.2:n.588del | ||
| NR_104215.2:n.531del | ||
| NR_104216.2:n.478+11046del |