Linked Data
ClinVar Variation Id:
204205
ClinVar RCV Id:
RCV000186412
dbSNP Id:
rs180177289
MyVariant Identifiers:
chr2:g.241816967_241816968delinsCG (hg19)
chr2:g.240877550_240877551delinsCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877550_240877551delinsCG , CM000664.2:g.240877550_240877551delinsCG | GRCh38 |
| NC_000002.11:g.241816967_241816968delinsCG , CM000664.1:g.241816967_241816968delinsCG | GRCh37 |
| NC_000002.10:g.241465640_241465641delinsCG | NCBI36 |
| NG_008005.1:g.13806_13807delinsCG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.860_861delinsCG MANE Select | ENSP00000302620.3:p.Ser287Thr | |
| ENST00000307503.3:c.860_861delinsCG | ENSP00000302620.3:p.Ser287Thr | |
| ENST00000470255.1:n.638_639delinsCG | ||
| NM_000030.2:c.860_861delinsCG | NP_000021.1:p.Ser287Thr | |
| NM_000030.3:c.860_861delinsCG MANE Select | NP_000021.1:p.Ser287Thr |