Linked Data
dbSNP Id:
rs749367263
ExAC:
2:215845373 A / AAAT
gnomAD v2:
2-215845373-A-AAAT
gnomAD v3:
2-214980649-A-AAAT
gnomAD v4:
2-214980649-A-AAAT
MyVariant Identifiers:
chr2:g.215845373_215845374insAAT (hg19)
chr2:g.214980649_214980650insAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214980651_214980653dup , CM000664.2:g.214980651_214980653dup | GRCh38 |
| NC_000002.11:g.215845375_215845377dup , CM000664.1:g.215845375_215845377dup | GRCh37 |
| NC_000002.10:g.215553620_215553622dup | NCBI36 |
| NG_007074.1:g.162776_162778dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.4580-9_4580-7dup MANE Select | ENSP00000272895.7:n.4580-9_4580-7dup | |
| ENST00000272895.11:c.4580-9_4580-7dup | ENSP00000272895.7:n.4580-9_4580-7dup | |
| ENST00000389661.4:c.3626-9_3626-7dup | ENSP00000374312.4:n.3626-9_3626-7dup | |
| NM_015657.3:c.3626-9_3626-7dup | NP_056472.2:n.3626-9_3626-7dup | |
| NM_173076.2:c.4580-9_4580-7dup | NP_775099.2:n.4580-9_4580-7dup | |
| NR_103740.1:n.4880-9_4880-7dup | ||
| XM_011510951.1:c.4589-9_4589-7dup | XP_011509253.1:n.4589-9_4589-7dup | |
| XM_011510952.1:c.4589-9_4589-7dup | XP_011509254.1:n.4589-9_4589-7dup | |
| XM_011510951.2:c.4589-9_4589-7dup | XP_011509253.1:n.4589-9_4589-7dup | |
| NM_173076.3:c.4580-9_4580-7dup MANE Select | NP_775099.2:n.4580-9_4580-7dup | |
| NR_103740.2:n.5078-9_5078-7dup | ||
| NM_015657.4:c.3626-9_3626-7dup | NP_056472.2:n.3626-9_3626-7dup |