Linked Data
ClinVar Variation Id:
224144
ClinVar RCV Id:
RCV000209932
RCV000509230
RCV000627109
RCV000627110
RCV000627111
RCV000505228
RCV000735645
RCV000824817
RCV001200907
RCV001200914
RCV001200915
RCV001266838
RCV002515568
dbSNP Id:
rs869312704
MyVariant Identifiers:
chr2:g.162280277_162280283dupGGCTGCA (hg19)
chr2:g.161423766_161423772dupGGCTGCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.161423766_161423772dup , CM000664.2:g.161423766_161423772dup | GRCh38 |
| NC_000002.11:g.162280277_162280283dup , CM000664.1:g.162280277_162280283dup | GRCh37 |
| NC_000002.10:g.161988523_161988529dup | NCBI36 |
| NG_046904.1:g.12658_12664dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389554.8:c.1588_1594dup MANE Select | ENSP00000374205.3:p.Thr532ArgfsTer? | |
| ENST00000389554.7:c.1588_1594dup | ENSP00000374205.3:p.Thr532ArgfsTer? | |
| ENST00000410035.1:c.727_733dup | ENSP00000387023.1:p.Thr245ArgfsTer? | |
| ENST00000411412.5:c.688_694dup | ENSP00000393934.1:p.Thr232ArgfsTer? | |
| ENST00000463544.1:n.7066_7072dup | ||
| NM_006593.2:c.1588_1594dup | NP_006584.1:p.Thr532ArgfsTer? | |
| NM_006593.3:c.1588_1594dup | NP_006584.1:p.Thr532ArgfsTer? | |
| NM_006593.4:c.1588_1594dup MANE Select | NP_006584.1:p.Thr532ArgfsTer? |