Linked Data
ClinVar Variation Id:
765319
ClinVar RCV Id:
RCV001394077
dbSNP Id:
rs1573054242
MyVariant Identifiers:
chr2:g.73828455G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601328G>A , CM000664.2:g.73601328G>A | GRCh38 |
| NC_000002.11:g.73828455G>A , CM000664.1:g.73828455G>A | GRCh37 |
| NC_000002.10:g.73681963G>A | NCBI36 |
| NG_011690.1:g.220576G>A , LRG_741:g.220576G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11625G>A | ENSP00000507671.1:p.Arg3875= | |
| ENST00000682801.1:c.11167-857G>A | ENSP00000507862.1:n.11167-857G>A | |
| ENST00000682859.1:c.11625G>A | ENSP00000508222.1:p.Arg3875= | |
| ENST00000683791.1:c.4711G>A | ||
| ENST00000684460.1:c.8906G>A | ||
| ENST00000684548.1:c.11625G>A | ENSP00000507421.1:p.Arg3875= | |
| ENST00000684590.1:c.6072G>A | ENSP00000507376.1:p.Arg2024= | |
| ENST00000684656.1:c.9090G>A | ||
| ENST00000613296.6:c.12006G>A MANE Select | ENSP00000482968.1:p.Arg4002= | |
| ENST00000651057.1:c.2160G>A | ENSP00000498504.1:p.Arg720= | |
| ENST00000651434.1:c.3362G>A | ||
| ENST00000651750.1:c.1260+447G>A | ||
| ENST00000652487.1:c.3177G>A | ||
| ENST00000464408.3:n.181G>A | ||
| ENST00000484298.5:c.11880G>A | ENSP00000478155.1:p.Arg3960= | |
| ENST00000613296.4:c.12006G>A | ENSP00000482968.1:p.Arg4002= | |
| ENST00000620466.4:n.5809G>A | ||
| NM_015120.4:c.12009G>A , LRG_741t1:c.12009G>A | NP_055935.4:p.Arg4003= | |
| NM_001378454.1:c.12006G>A MANE Select | NP_001365383.1:p.Arg4002= |