MyVariant.info:
GRCh38
chr2:g.29071274dupG
GRCh38
chr2:g.29071273_29071274insG
GRCh37
chr2:g.29294140dupG
GRCh37
chr2:g.29294139_29294140insG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071276dup , CM000664.2:g.29071276dup | GRCh38 |
| NC_000002.11:g.29294142dup , CM000664.1:g.29294142dup | GRCh37 |
| NC_000002.10:g.29147646dup | NCBI36 |
| NG_021427.1:g.7988dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.2988dup MANE Select | ENSP00000332809.4:p.Thr997HisfsTer? | |
| ENST00000331664.5:c.2988dup | ENSP00000332809.4:p.Thr997HisfsTer? | |
| NM_001029883.2:c.2988dup | NP_001025054.1:p.Thr997HisfsTer? | |
| XM_011532826.1:c.2988dup | XP_011531128.1:p.Thr997HisfsTer? | |
| XR_939901.1:n.185+2109dup | ||
| XR_939902.1:n.173+2121dup | ||
| NM_001029883.3:c.2988dup MANE Select | NP_001025054.1:p.Thr997HisfsTer? |