Linked Data
ClinVar Variation Id:
552861
ClinVar RCV Id:
RCV000668201
dbSNP Id:
rs1553409656
MyVariant Identifiers:
chr2:g.73489957_73489972dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73489957_73489972dup , CM000664.2:g.73489957_73489972dup | GRCh38 |
| NC_000002.11:g.73717084_73717099dup , CM000664.1:g.73717084_73717099dup | GRCh37 |
| NC_000002.10:g.73570592_73570607dup | NCBI36 |
| NG_011690.1:g.109205_109220dup , LRG_741:g.109205_109220dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7617_7632dup | ENSP00000507671.1:p.Phe2545ArgfsTer8 | |
| ENST00000682801.1:c.7617_7632dup | ENSP00000507862.1:p.Phe2545ArgfsTer8 | |
| ENST00000682859.1:c.7617_7632dup | ENSP00000508222.1:p.Phe2545ArgfsTer8 | |
| ENST00000683791.1:c.1009_1024dup | ||
| ENST00000684460.1:c.5069_5084dup | ||
| ENST00000684548.1:c.7617_7632dup | ENSP00000507421.1:p.Phe2545ArgfsTer8 | |
| ENST00000684590.1:c.2064_2079dup | ENSP00000507376.1:p.Phe694ArgfsTer8 | |
| ENST00000684656.1:c.5069_5084dup | ||
| ENST00000613296.6:c.7998_8013dup MANE Select | ENSP00000482968.1:p.Phe2672ArgfsTer8 | |
| ENST00000651434.1:c.896-29818_896-29803dup | ||
| ENST00000423048.5:c.2829_2844dup | ENSP00000399833.1:p.Phe949ArgfsTer8 | |
| ENST00000484298.5:c.7872_7887dup | ENSP00000478155.1:p.Phe2630ArgfsTer8 | |
| ENST00000613296.4:c.7998_8013dup | ENSP00000482968.1:p.Phe2672ArgfsTer8 | |
| ENST00000614410.4:c.7998_8013dup | ENSP00000479094.1:p.Phe2672ArgfsTer8 | |
| ENST00000620466.4:n.1801_1816dup | ||
| NM_015120.4:c.8001_8016dup , LRG_741t1:c.8001_8016dup | NP_055935.4:p.Phe2673ArgfsTer8 | |
| NM_001378454.1:c.7998_8013dup MANE Select | NP_001365383.1:p.Phe2672ArgfsTer8 |