Linked Data
dbSNP Id:
rs761976363
ExAC:
2:234888892 C / CT
gnomAD v2:
2-234888892-C-CT
gnomAD v3:
2-233980248-C-CT
gnomAD v4:
2-233980248-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233980254dup , CM000664.2:g.233980254dup | GRCh38 |
| NC_000002.11:g.234888898dup , CM000664.1:g.234888898dup | GRCh37 |
| NC_000002.10:g.234553637dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324695.9:c.2422dup MANE Select | ENSP00000323926.4:p.Tyr808LeufsTer14 | |
| ENST00000324695.8:c.2422dup | ENSP00000323926.4:p.Tyr808LeufsTer14 | |
| ENST00000433712.6:c.1369dup | ENSP00000404423.3:p.Tyr457LeufsTer14 | |
| ENST00000444298.5:c.*1371dup | ENSP00000396745.1:n.*1371dup | |
| ENST00000456930.1:c.205dup | ENSP00000414198.1:p.Tyr69LeufsTer14 | |
| ENST00000475044.5:n.127-2799dup | ||
| ENST00000477103.1:n.133dup | ||
| NM_024080.4:c.2422dup | NP_076985.4:p.Tyr808LeufsTer14 | |
| XM_011511810.1:c.2422dup | XP_011510112.1:p.Tyr808LeufsTer14 | |
| XM_011511810.2:c.2422dup | XP_011510112.1:p.Tyr808LeufsTer14 | |
| XM_017004891.1:c.2191dup | XP_016860380.1:p.Tyr731LeufsTer14 | |
| XM_024453132.1:c.2191dup | XP_024308900.1:p.Tyr731LeufsTer14 | |
| XM_024453133.1:c.1237dup | XP_024308901.1:p.Tyr413LeufsTer14 | |
| XM_024453134.1:c.1237dup | XP_024308902.1:p.Tyr413LeufsTer14 | |
| NM_024080.5:c.2422dup MANE Select | NP_076985.4:p.Tyr808LeufsTer14 | |
| NM_001397606.1:c.2422dup | NP_001384535.1:p.Tyr808LeufsTer14 | |
| NM_001397607.1:c.2272dup | NP_001384536.1:p.Tyr758LeufsTer14 | |
| NM_001397608.1:c.2422dup | NP_001384537.1:p.Tyr808LeufsTer14 | |
| NM_001397609.1:c.2191dup | NP_001384538.1:p.Tyr731LeufsTer14 | |
| NM_001397610.1:c.2191dup | NP_001384539.1:p.Tyr731LeufsTer14 | |
| NM_001397611.1:c.2191dup | NP_001384540.1:p.Tyr731LeufsTer14 | |
| NM_001397612.1:c.2191dup | NP_001384541.1:p.Tyr731LeufsTer14 | |
| NM_001397613.1:c.2191dup | NP_001384542.1:p.Tyr731LeufsTer14 | |
| NM_001397614.1:c.1237dup | NP_001384543.1:p.Tyr413LeufsTer14 | |
| NM_001397615.1:c.1237dup | NP_001384544.1:p.Tyr413LeufsTer14 | |
| NM_001397617.1:c.22dup | NP_001384546.1:p.Tyr8LeufsTer14 | |
| NM_001397619.1:c.1237dup | NP_001384548.1:p.Tyr413LeufsTer14 | |
| NM_001397620.1:c.22dup | NP_001384549.1:p.Tyr8LeufsTer14 | |
| NM_001397621.1:c.22dup | NP_001384550.1:p.Tyr8LeufsTer14 | |
| NM_001397622.1:c.22dup | NP_001384551.1:p.Tyr8LeufsTer14 | |
| NM_001397623.1:c.22dup | NP_001384552.1:p.Tyr8LeufsTer14 | |
| NM_001397624.1:c.22dup | NP_001384553.1:p.Tyr8LeufsTer14 | |
| NM_001397625.1:c.22dup | NP_001384554.1:p.Tyr8LeufsTer14 | |
| NM_001397635.1:c.1576dup | NP_001384564.1:p.Tyr526LeufsTer14 |