Linked Data
gnomAD v4:
2-149570039-C-CAACT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149570041_149570044dup , CM000664.2:g.149570041_149570044dup | GRCh38 |
| NC_000002.11:g.150426555_150426558dup , CM000664.1:g.150426555_150426558dup | GRCh37 |
| NC_000002.10:g.150134801_150134804dup | NCBI36 |
| NG_009189.1:g.22774_22777dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.822_825dup MANE Select | ENSP00000301920.5:p.Val276SerfsTer8 | |
| ENST00000303319.9:c.822_825dup | ENSP00000301920.5:p.Val276SerfsTer8 | |
| ENST00000422782.2:c.924_927dup | ENSP00000408331.2:p.Val310SerfsTer8 | |
| ENST00000428879.5:c.822_825dup | ENSP00000389060.1:p.Val276SerfsTer8 | |
| NM_015702.2:c.822_825dup | NP_056517.1:p.Val276SerfsTer8 | |
| NM_015702.3:c.822_825dup MANE Select | NP_056517.1:p.Val276SerfsTer8 |