Linked Data
ClinVar Variation Id:
286350
ClinVar RCV Id:
RCV000367731
dbSNP Id:
rs886043368
MyVariant Identifiers:
chr2:g.219924961_219924962delinsTT (hg19)
chr2:g.219060239_219060240delinsTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060239_219060240delinsTT , CM000664.2:g.219060239_219060240delinsTT | GRCh38 |
| NC_000002.11:g.219924961_219924962delinsTT , CM000664.1:g.219924961_219924962delinsTT | GRCh37 |
| NC_000002.10:g.219633205_219633206delinsTT | NCBI36 |
| NG_016741.1:g.5277_5278delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.228_229delinsAA MANE Select | ENSP00000295731.5:p.Arg77Ser | |
| ENST00000295731.6:c.228_229delinsAA | ENSP00000295731.5:p.Arg77Ser | |
| NM_002181.3:c.228_229delinsAA | NP_002172.2:p.Arg77Ser | |
| NM_002181.4:c.228_229delinsAA MANE Select | NP_002172.2:p.Arg77Ser |