Linked Data
ClinVar Variation Id:
1587200
ClinVar RCV Id:
RCV002103095
dbSNP Id:
rs2106011215
gnomAD v4:
2-219553007-C-T
MyVariant Identifiers:
chr2:g.220417729C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219553007C>T , CM000664.2:g.219553007C>T | GRCh38 |
| NC_000002.11:g.220417729C>T , CM000664.1:g.220417729C>T | GRCh37 |
| NC_000002.10:g.220125973C>T | NCBI36 |
| NG_016977.1:g.23540G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404537.6:c.5007G>A MANE Select | ENSP00000385636.1:p.Thr1669= | |
| ENST00000373876.5:c.4731G>A | ENSP00000362983.1:p.Thr1577= | |
| ENST00000404537.5:c.5007G>A | ENSP00000385636.1:p.Thr1669= | |
| ENST00000465149.1:n.3734G>A | ||
| NM_015311.2:c.5007G>A | NP_056126.1:p.Thr1669= | |
| XM_005246424.3:c.4731G>A | XP_005246481.1:p.Thr1577= | |
| XM_011510854.1:c.5064G>A | XP_011509156.1:p.Thr1688= | |
| XM_011510855.1:c.5064G>A | XP_011509157.1:p.Thr1688= | |
| XM_011510856.1:c.5064G>A | XP_011509158.1:p.Thr1688= | |
| XM_011510857.1:c.5007G>A | XP_011509159.1:p.Thr1669= | |
| XM_011510858.1:c.5064G>A | XP_011509160.1:p.Thr1688= | |
| XM_011510859.1:c.4788G>A | XP_011509161.1:p.Thr1596= | |
| XM_011510860.1:c.4788G>A | XP_011509162.1:p.Thr1596= | |
| XM_011510861.1:c.4512G>A | XP_011509163.1:p.Thr1504= | |
| XM_011510862.1:c.4951G>A | XP_011509164.1:p.Ala1651Thr | |
| XM_011510863.1:c.4627G>A | XP_011509165.1:p.Ala1543Thr | |
| XM_011510857.2:c.5007G>A | XP_011509159.1:p.Thr1669= | |
| XM_011510863.3:c.4627G>A | XP_011509165.1:p.Ala1543Thr | |
| XM_017003696.2:c.5007G>A | XP_016859185.1:p.Thr1669= | |
| XM_017003697.2:c.5007G>A | XP_016859186.1:p.Thr1669= | |
| XM_017003698.1:c.4731G>A | XP_016859187.1:p.Thr1577= | |
| XM_017003699.1:c.4731G>A | XP_016859188.1:p.Thr1577= | |
| XM_017003700.1:c.4455G>A | XP_016859189.1:p.Thr1485= | |
| NM_015311.3:c.5007G>A MANE Select | NP_056126.1:p.Thr1669= |