Linked Data
ClinVar Variation Id:
1149830
ClinVar RCV Id:
RCV001490222
dbSNP Id:
rs2106018929
MyVariant Identifiers:
chr2:g.215609846A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214745122A>G , CM000664.2:g.214745122A>G | GRCh38 |
| NC_000002.11:g.215609846A>G , CM000664.1:g.215609846A>G | GRCh37 |
| NC_000002.10:g.215318091A>G | NCBI36 |
| NG_012047.2:g.69583T>C | |
| NG_012047.3:g.69590T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1848T>C MANE Select | ENSP00000260947.4:p.Ser616= | |
| ENST00000421162.2:c.495T>C | ENSP00000392245.2:p.Ser165= | |
| ENST00000613192.2:c.159-14614T>C | ENSP00000483275.2:n.159-14614T>C | |
| ENST00000613374.5:c.438T>C | ENSP00000484464.1:p.Ser146= | |
| ENST00000613706.5:c.1440T>C | ENSP00000484976.2:p.Ser480= | |
| ENST00000617164.5:c.1791T>C | ENSP00000480470.1:p.Ser597= | |
| ENST00000619009.5:c.365-14614T>C | ENSP00000482293.1:n.365-14614T>C | |
| ENST00000650978.1:c.3223T>C | ||
| ENST00000260947.8:c.1848T>C | ENSP00000260947.4:p.Ser616= | |
| ENST00000421162.1:c.495T>C | ENSP00000392245.1:p.Ser165= | |
| ENST00000455743.5:c.*1468T>C | ENSP00000412186.1:n.*1468T>C | |
| ENST00000613192.1:c.74-14614T>C | ENSP00000483275.1:n.74-14614T>C | |
| ENST00000613374.4:c.438T>C | ENSP00000484464.1:p.Ser146= | |
| ENST00000613706.4:c.495T>C | ENSP00000484976.1:p.Ser165= | |
| ENST00000617164.4:c.1791T>C | ENSP00000480470.1:p.Ser597= | |
| ENST00000619009.4:c.365-14614T>C | ENSP00000482293.1:n.365-14614T>C | |
| ENST00000620057.4:c.*514T>C | ENSP00000481988.1:n.*514T>C | |
| NM_000465.3:c.1848T>C | NP_000456.2:p.Ser616= | |
| NM_001282543.1:c.1791T>C | NP_001269472.1:p.Ser597= | |
| NM_001282545.1:c.495T>C | NP_001269474.1:p.Ser165= | |
| NM_001282548.1:c.438T>C | NP_001269477.1:p.Ser146= | |
| NM_001282549.1:c.365-14614T>C | NP_001269478.1:n.365-14614T>C | |
| NR_104212.1:n.1841T>C | ||
| NR_104215.1:n.1784T>C | ||
| NR_104216.1:n.1040T>C | ||
| XM_011511567.1:c.1794T>C | XP_011509869.1:p.Ser598= | |
| XM_011511568.1:c.1848T>C | XP_011509870.1:p.Ser616= | |
| XM_017004613.1:c.1947T>C | XP_016860102.1:p.Ser649= | |
| XM_017004614.1:c.1947T>C | XP_016860103.1:p.Ser649= | |
| XR_002959322.1:n.2038T>C | ||
| NM_000465.4:c.1848T>C MANE Select | NP_000456.2:p.Ser616= | |
| NM_001282543.2:c.1791T>C | NP_001269472.1:p.Ser597= | |
| NM_001282545.2:c.495T>C | NP_001269474.1:p.Ser165= | |
| NM_001282548.2:c.438T>C | NP_001269477.1:p.Ser146= | |
| NM_001282549.2:c.365-14614T>C | NP_001269478.1:n.365-14614T>C | |
| NR_104212.2:n.1813T>C | ||
| NR_104215.2:n.1756T>C | ||
| NR_104216.2:n.1012T>C |