MyVariant.info:
GRCh38
chr2:g.21001941_21001943del
GRCh38
chr2:g.21001940_21001942del
GRCh37
chr2:g.21224812_21224814del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00043134 (NFE)
Genomes Max Group AF
0.00031684 (NFE)
Exomes Max Group AF
0.00043166 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21001943_21001945del , CM000664.2:g.21001943_21001945del | GRCh38 |
| NC_000002.11:g.21224815_21224817del , CM000664.1:g.21224815_21224817del | GRCh37 |
| NC_000002.10:g.21078320_21078322del | NCBI36 |
| NG_011793.1:g.47132_47134del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.13480_13482del MANE Select | ENSP00000233242.1:p.Gln4494del | |
| ENST00000616098.4:c.13478_13480del | ENSP00000477990.1:n.13478_13480del | |
| NM_000384.2:c.13480_13482del | NP_000375.2:p.Gln4494del | |
| XM_011532809.1:c.5870-2669_5870-2667del | XP_011531111.1:n.5870-2669_5870-2667del | |
| NM_000384.3:c.13480_13482del MANE Select | NP_000375.3:p.Gln4494del |