Linked Data
ClinVar Variation Id:
1590085
ClinVar RCV Id:
RCV002119556
dbSNP Id:
rs1672940803
MyVariant Identifiers:
chr2:g.73717099A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73489972A>C , CM000664.2:g.73489972A>C | GRCh38 |
| NC_000002.11:g.73717099A>C , CM000664.1:g.73717099A>C | GRCh37 |
| NC_000002.10:g.73570607A>C | NCBI36 |
| NG_011690.1:g.109220A>C , LRG_741:g.109220A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7632A>C | ENSP00000507671.1:p.Pro2544= | |
| ENST00000682801.1:c.7632A>C | ENSP00000507862.1:p.Pro2544= | |
| ENST00000682859.1:c.7632A>C | ENSP00000508222.1:p.Pro2544= | |
| ENST00000683791.1:c.1024A>C | ||
| ENST00000684460.1:c.5084A>C | ||
| ENST00000684548.1:c.7632A>C | ENSP00000507421.1:p.Pro2544= | |
| ENST00000684590.1:c.2079A>C | ENSP00000507376.1:p.Pro693= | |
| ENST00000684656.1:c.5084A>C | ||
| ENST00000613296.6:c.8013A>C MANE Select | ENSP00000482968.1:p.Pro2671= | |
| ENST00000651434.1:c.896-29803A>C | ||
| ENST00000423048.5:c.2844A>C | ENSP00000399833.1:p.Pro948= | |
| ENST00000484298.5:c.7887A>C | ENSP00000478155.1:p.Pro2629= | |
| ENST00000613296.4:c.8013A>C | ENSP00000482968.1:p.Pro2671= | |
| ENST00000614410.4:c.8013A>C | ENSP00000479094.1:p.Pro2671= | |
| ENST00000620466.4:n.1816A>C | ||
| NM_015120.4:c.8016A>C , LRG_741t1:c.8016A>C | NP_055935.4:p.Pro2672= | |
| NM_001378454.1:c.8013A>C MANE Select | NP_001365383.1:p.Pro2671= |