Linked Data
ClinVar Variation Id:
2829593
ClinVar RCV Id:
RCV003741935
gnomAD v4:
2-199348800-C-A
MyVariant Identifiers:
chr2:g.200213523C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.199348800C>A , CM000664.2:g.199348800C>A | GRCh38 |
| NC_000002.11:g.200213523C>A , CM000664.1:g.200213523C>A | GRCh37 |
| NC_000002.10:g.199921768C>A | NCBI36 |
| NG_016976.1:g.127467G>T | |
| NG_016976.2:g.127467G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428695.6:c.720G>T | ENSP00000388581.1:p.Val240= | |
| ENST00000700191.1:c.720G>T | ENSP00000514853.1:p.Val240= | |
| ENST00000700193.1:c.1074G>T | ENSP00000514854.1:p.Val358= | |
| ENST00000700208.1:c.347-76128G>T | ENSP00000514860.1:n.347-76128G>T | |
| ENST00000700210.1:c.728G>T | ||
| ENST00000417098.6:c.1074G>T MANE Select | ENSP00000401112.1:p.Val358= | |
| ENST00000260926.9:c.1074G>T | ENSP00000260926.5:p.Val358= | |
| ENST00000417098.5:c.1074G>T | ENSP00000401112.1:p.Val358= | |
| ENST00000428695.5:c.720G>T | ENSP00000388581.1:p.Val240= | |
| ENST00000443023.5:c.897G>T | ENSP00000388764.1:p.Val299= | |
| ENST00000457245.5:c.1074G>T | ENSP00000405420.1:p.Val358= | |
| ENST00000483346.2:n.713G>T | ||
| ENST00000614512.4:c.720G>T | ENSP00000483287.1:p.Val240= | |
| NM_001172509.1:c.1074G>T | NP_001165980.1:p.Val358= | |
| NM_001172517.1:c.1074G>T | NP_001165988.1:p.Val358= | |
| NM_015265.3:c.1074G>T | NP_056080.1:p.Val358= | |
| XM_005246396.1:c.900G>T | XP_005246453.1:p.Val300= | |
| XM_006712372.1:c.1074G>T | XP_006712435.1:p.Val358= | |
| XM_011510840.1:c.1074G>T | XP_011509142.1:p.Val358= | |
| XM_005246396.3:c.900G>T | XP_005246453.1:p.Val300= | |
| XM_011510840.3:c.1074G>T | XP_011509142.1:p.Val358= | |
| XM_017003656.1:c.900G>T | XP_016859145.1:p.Val300= | |
| XM_024452767.1:c.651G>T | XP_024308535.1:p.Val217= | |
| XM_024452768.1:c.651G>T | XP_024308536.1:p.Val217= | |
| NM_001172509.2:c.1074G>T MANE Select | NP_001165980.1:p.Val358= | |
| NM_015265.4:c.1074G>T | NP_056080.1:p.Val358= |