Linked Data
ClinVar Variation Id:
2055891
ClinVar RCV Id:
RCV002938272
MyVariant Identifiers:
chr2:g.73717327G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490200G>A , CM000664.2:g.73490200G>A | GRCh38 |
| NC_000002.11:g.73717327G>A , CM000664.1:g.73717327G>A | GRCh37 |
| NC_000002.10:g.73570835G>A | NCBI36 |
| NG_011690.1:g.109448G>A , LRG_741:g.109448G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7860G>A | ENSP00000507671.1:p.Val2620= | |
| ENST00000682801.1:c.7860G>A | ENSP00000507862.1:p.Val2620= | |
| ENST00000682859.1:c.7860G>A | ENSP00000508222.1:p.Val2620= | |
| ENST00000683791.1:c.1252G>A | ||
| ENST00000684460.1:c.5312G>A | ||
| ENST00000684548.1:c.7860G>A | ENSP00000507421.1:p.Val2620= | |
| ENST00000684590.1:c.2307G>A | ENSP00000507376.1:p.Val769= | |
| ENST00000684656.1:c.5312G>A | ||
| ENST00000613296.6:c.8241G>A MANE Select | ENSP00000482968.1:p.Val2747= | |
| ENST00000651434.1:c.896-29575G>A | ||
| ENST00000423048.5:c.3030+42G>A | ENSP00000399833.1:n.3030+42G>A | |
| ENST00000484298.5:c.8115G>A | ENSP00000478155.1:p.Val2705= | |
| ENST00000613296.4:c.8241G>A | ENSP00000482968.1:p.Val2747= | |
| ENST00000614410.4:c.8241G>A | ENSP00000479094.1:p.Val2747= | |
| ENST00000620466.4:n.2044G>A | ||
| NM_015120.4:c.8244G>A , LRG_741t1:c.8244G>A | NP_055935.4:p.Val2748= | |
| NM_001378454.1:c.8241G>A MANE Select | NP_001365383.1:p.Val2747= |