Linked Data
ClinVar Variation Id:
2996853
ClinVar RCV Id:
RCV003858988
MyVariant Identifiers:
chr2:g.73799465C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572338C>A , CM000664.2:g.73572338C>A | GRCh38 |
| NC_000002.11:g.73799465C>A , CM000664.1:g.73799465C>A | GRCh37 |
| NC_000002.10:g.73652973C>A | NCBI36 |
| NG_011690.1:g.191586C>A , LRG_741:g.191586C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10080C>A | ENSP00000507671.1:p.Pro3360= | |
| ENST00000682801.1:c.10080C>A | ENSP00000507862.1:p.Pro3360= | |
| ENST00000682859.1:c.10080C>A | ENSP00000508222.1:p.Pro3360= | |
| ENST00000683791.1:c.3166C>A | ||
| ENST00000684460.1:c.7361C>A | ||
| ENST00000684548.1:c.10080C>A | ENSP00000507421.1:p.Pro3360= | |
| ENST00000684590.1:c.4527C>A | ENSP00000507376.1:p.Pro1509= | |
| ENST00000684656.1:c.7406C>A | ||
| ENST00000613296.6:c.10461C>A MANE Select | ENSP00000482968.1:p.Pro3487= | |
| ENST00000651057.1:c.615C>A | ENSP00000498504.1:p.Pro205= | |
| ENST00000651434.1:c.1817C>A | ||
| ENST00000652487.1:c.1558C>A | ||
| ENST00000423048.5:c.3952C>A | ENSP00000399833.1:n.3952C>A | |
| ENST00000484298.5:c.10335C>A | ENSP00000478155.1:p.Pro3445= | |
| ENST00000613296.4:c.10461C>A | ENSP00000482968.1:p.Pro3487= | |
| ENST00000614410.4:c.10461C>A | ENSP00000479094.1:p.Pro3487= | |
| ENST00000620466.4:n.4264C>A | ||
| NM_015120.4:c.10464C>A , LRG_741t1:c.10464C>A | NP_055935.4:p.Pro3488= | |
| NM_001378454.1:c.10461C>A MANE Select | NP_001365383.1:p.Pro3487= |