Linked Data
ClinVar Variation Id:
1156362
ClinVar RCV Id:
RCV001499002
dbSNP Id:
rs763852365
gnomAD v4:
2-240877566-C-G
MyVariant Identifiers:
chr2:g.241816983C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877566C>G , CM000664.2:g.240877566C>G | GRCh38 |
| NC_000002.11:g.241816983C>G , CM000664.1:g.241816983C>G | GRCh37 |
| NC_000002.10:g.241465656C>G | NCBI36 |
| NG_008005.1:g.13822C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.876C>G MANE Select | ENSP00000302620.3:p.Arg292= | |
| ENST00000307503.3:c.876C>G | ENSP00000302620.3:p.Arg292= | |
| ENST00000470255.1:n.654C>G | ||
| NM_000030.2:c.876C>G | NP_000021.1:p.Arg292= | |
| NM_000030.3:c.876C>G MANE Select | NP_000021.1:p.Arg292= |