MyVariant.info:
GRCh38
chr2:g.21043904_21043912del
GRCh38
chr2:g.21043903_21043911del
GRCh37
chr2:g.21266775_21266783del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32735392 (NFE)
Genomes Max Group AF
0.32000581 (AMR)
Exomes Max Group AF
0.32781919 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21043919_21043927del , CM000664.2:g.21043919_21043927del | GRCh38 |
| NC_000002.11:g.21266791_21266799del , CM000664.1:g.21266791_21266799del | GRCh37 |
| NC_000002.10:g.21120296_21120304del | NCBI36 |
| NG_011793.1:g.5163_5171del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.35_43del | ENSP00000501110.2:p.Leu12_Leu14del | |
| ENST00000673882.2:c.35_43del | ENSP00000501253.2:p.Leu12_Leu14del | |
| ENST00000233242.5:c.35_43del MANE Select | ENSP00000233242.1:p.Leu12_Leu14del | |
| ENST00000399256.4:c.35_43del | ENSP00000382200.4:p.Leu12_Leu14del | |
| ENST00000616098.4:c.35_43del | ENSP00000477990.1:p.Leu12_Leu14del | |
| NM_000384.2:c.35_43del | NP_000375.2:p.Leu12_Leu14del | |
| XM_011532809.1:c.35_43del | XP_011531111.1:p.Leu12_Leu14del | |
| NM_000384.3:c.35_43del MANE Select | NP_000375.3:p.Leu12_Leu14del |