Linked Data
ClinVar Variation Id:
1606273
ClinVar RCV Id:
RCV002137660
dbSNP Id:
rs2104196057
gnomAD v4:
2-73601322-A-G
MyVariant Identifiers:
chr2:g.73828449A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601322A>G , CM000664.2:g.73601322A>G | GRCh38 |
| NC_000002.11:g.73828449A>G , CM000664.1:g.73828449A>G | GRCh37 |
| NC_000002.10:g.73681957A>G | NCBI36 |
| NG_011690.1:g.220570A>G , LRG_741:g.220570A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11619A>G | ENSP00000507671.1:p.Pro3873= | |
| ENST00000682801.1:c.11167-863A>G | ENSP00000507862.1:n.11167-863A>G | |
| ENST00000682859.1:c.11619A>G | ENSP00000508222.1:p.Pro3873= | |
| ENST00000683791.1:c.4705A>G | ||
| ENST00000684460.1:c.8900A>G | ||
| ENST00000684548.1:c.11619A>G | ENSP00000507421.1:p.Pro3873= | |
| ENST00000684590.1:c.6066A>G | ENSP00000507376.1:p.Pro2022= | |
| ENST00000684656.1:c.9084A>G | ||
| ENST00000613296.6:c.12000A>G MANE Select | ENSP00000482968.1:p.Pro4000= | |
| ENST00000651057.1:c.2154A>G | ENSP00000498504.1:p.Pro718= | |
| ENST00000651434.1:c.3356A>G | ||
| ENST00000651750.1:c.1260+441A>G | ||
| ENST00000652487.1:c.3171A>G | ||
| ENST00000464408.3:n.175A>G | ||
| ENST00000484298.5:c.11874A>G | ENSP00000478155.1:p.Pro3958= | |
| ENST00000613296.4:c.12000A>G | ENSP00000482968.1:p.Pro4000= | |
| ENST00000620466.4:n.5803A>G | ||
| NM_015120.4:c.12003A>G , LRG_741t1:c.12003A>G | NP_055935.4:p.Pro4001= | |
| NM_001378454.1:c.12000A>G MANE Select | NP_001365383.1:p.Pro4000= |