Linked Data
ClinVar Variation Id:
204188
ClinVar RCV Id:
RCV000186395
dbSNP Id:
rs180177233
MyVariant Identifiers:
chr2:g.241810861_241810862delinsGA (hg19)
chr2:g.240871444_240871445delinsGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240871444_240871445delinsGA , CM000664.2:g.240871444_240871445delinsGA | GRCh38 |
| NC_000002.11:g.241810861_241810862delinsGA , CM000664.1:g.241810861_241810862delinsGA | GRCh37 |
| NC_000002.10:g.241459534_241459535delinsGA | NCBI36 |
| NG_008005.1:g.7700_7701delinsGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.519_520delinsGA MANE Select | ENSP00000302620.3:p.Cys173_His174delinsTr... | |
| ENST00000307503.3:c.519_520delinsGA | ENSP00000302620.3:p.Cys173_His174delinsTr... | |
| ENST00000472436.1:n.539_540delinsGA | ||
| ENST00000476698.1:n.256_257delinsGA | ||
| NM_000030.2:c.519_520delinsGA | NP_000021.1:p.Cys173_His174delinsTrpAsn | |
| NM_000030.3:c.519_520delinsGA MANE Select | NP_000021.1:p.Cys173_His174delinsTrpAsn |