Linked Data
ClinVar Variation Id:
2731207
ClinVar RCV Id:
RCV003579954
MyVariant Identifiers:
chr2:g.241817480T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878063T>C , CM000664.2:g.240878063T>C | GRCh38 |
| NC_000002.11:g.241817480T>C , CM000664.1:g.241817480T>C | GRCh37 |
| NC_000002.10:g.241466153T>C | NCBI36 |
| NG_008005.1:g.14319T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.984T>C MANE Select | ENSP00000302620.3:p.Ala328= | |
| ENST00000307503.3:c.984T>C | ENSP00000302620.3:p.Ala328= | |
| ENST00000470255.1:n.762T>C | ||
| NM_000030.2:c.984T>C | NP_000021.1:p.Ala328= | |
| NM_000030.3:c.984T>C MANE Select | NP_000021.1:p.Ala328= |