Linked Data
ClinVar Variation Id:
2825680
ClinVar RCV Id:
RCV003610373
MyVariant Identifiers:
chr2:g.73799732A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572605A>G , CM000664.2:g.73572605A>G | GRCh38 |
| NC_000002.11:g.73799732A>G , CM000664.1:g.73799732A>G | GRCh37 |
| NC_000002.10:g.73653240A>G | NCBI36 |
| NG_011690.1:g.191853A>G , LRG_741:g.191853A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10347A>G | ENSP00000507671.1:p.Gln3449= | |
| ENST00000682801.1:c.10347A>G | ENSP00000507862.1:p.Gln3449= | |
| ENST00000682859.1:c.10347A>G | ENSP00000508222.1:p.Gln3449= | |
| ENST00000683791.1:c.3433A>G | ||
| ENST00000684460.1:c.7628A>G | ||
| ENST00000684548.1:c.10347A>G | ENSP00000507421.1:p.Gln3449= | |
| ENST00000684590.1:c.4794A>G | ENSP00000507376.1:p.Gln1598= | |
| ENST00000684656.1:c.7673A>G | ||
| ENST00000613296.6:c.10728A>G MANE Select | ENSP00000482968.1:p.Gln3576= | |
| ENST00000651057.1:c.882A>G | ENSP00000498504.1:p.Gln294= | |
| ENST00000651434.1:c.2084A>G | ||
| ENST00000651750.1:c.116A>G | ||
| ENST00000652487.1:c.1825A>G | ||
| ENST00000423048.5:c.4219A>G | ENSP00000399833.1:n.4219A>G | |
| ENST00000484298.5:c.10602A>G | ENSP00000478155.1:p.Gln3534= | |
| ENST00000613296.4:c.10728A>G | ENSP00000482968.1:p.Gln3576= | |
| ENST00000614410.4:c.10728A>G | ENSP00000479094.1:p.Gln3576= | |
| ENST00000620466.4:n.4531A>G | ||
| NM_015120.4:c.10731A>G , LRG_741t1:c.10731A>G | NP_055935.4:p.Gln3577= | |
| NM_001378454.1:c.10728A>G MANE Select | NP_001365383.1:p.Gln3576= |