Linked Data
ClinVar Variation Id:
1113500
dbSNP Id:
rs1559386134
MyVariant Identifiers:
chr2:g.215609842A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214745118A>G , CM000664.2:g.214745118A>G | GRCh38 |
| NC_000002.11:g.215609842A>G , CM000664.1:g.215609842A>G | GRCh37 |
| NC_000002.10:g.215318087A>G | NCBI36 |
| NG_012047.2:g.69587T>C | |
| NG_012047.3:g.69594T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1852T>C MANE Select | ENSP00000260947.4:p.Leu618= | |
| ENST00000421162.2:c.499T>C | ENSP00000392245.2:p.Leu167= | |
| ENST00000613192.2:c.159-14610T>C | ENSP00000483275.2:n.159-14610T>C | |
| ENST00000613374.5:c.442T>C | ENSP00000484464.1:p.Leu148= | |
| ENST00000613706.5:c.1444T>C | ENSP00000484976.2:p.Leu482= | |
| ENST00000617164.5:c.1795T>C | ENSP00000480470.1:p.Leu599= | |
| ENST00000619009.5:c.365-14610T>C | ENSP00000482293.1:n.365-14610T>C | |
| ENST00000650978.1:c.3227T>C | ||
| ENST00000260947.8:c.1852T>C | ENSP00000260947.4:p.Leu618= | |
| ENST00000421162.1:c.499T>C | ENSP00000392245.1:p.Leu167= | |
| ENST00000455743.5:c.*1472T>C | ENSP00000412186.1:n.*1472T>C | |
| ENST00000613192.1:c.74-14610T>C | ENSP00000483275.1:n.74-14610T>C | |
| ENST00000613374.4:c.442T>C | ENSP00000484464.1:p.Leu148= | |
| ENST00000613706.4:c.499T>C | ENSP00000484976.1:p.Leu167= | |
| ENST00000617164.4:c.1795T>C | ENSP00000480470.1:p.Leu599= | |
| ENST00000619009.4:c.365-14610T>C | ENSP00000482293.1:n.365-14610T>C | |
| ENST00000620057.4:c.*518T>C | ENSP00000481988.1:n.*518T>C | |
| NM_000465.3:c.1852T>C | NP_000456.2:p.Leu618= | |
| NM_001282543.1:c.1795T>C | NP_001269472.1:p.Leu599= | |
| NM_001282545.1:c.499T>C | NP_001269474.1:p.Leu167= | |
| NM_001282548.1:c.442T>C | NP_001269477.1:p.Leu148= | |
| NM_001282549.1:c.365-14610T>C | NP_001269478.1:n.365-14610T>C | |
| NR_104212.1:n.1845T>C | ||
| NR_104215.1:n.1788T>C | ||
| NR_104216.1:n.1044T>C | ||
| XM_011511567.1:c.1798T>C | XP_011509869.1:p.Leu600= | |
| XM_011511568.1:c.1852T>C | XP_011509870.1:p.Leu618= | |
| XM_017004613.1:c.1951T>C | XP_016860102.1:p.Leu651= | |
| XM_017004614.1:c.1951T>C | XP_016860103.1:p.Leu651= | |
| XR_002959322.1:n.2042T>C | ||
| NM_000465.4:c.1852T>C MANE Select | NP_000456.2:p.Leu618= | |
| NM_001282543.2:c.1795T>C | NP_001269472.1:p.Leu599= | |
| NM_001282545.2:c.499T>C | NP_001269474.1:p.Leu167= | |
| NM_001282548.2:c.442T>C | NP_001269477.1:p.Leu148= | |
| NM_001282549.2:c.365-14610T>C | NP_001269478.1:n.365-14610T>C | |
| NR_104212.2:n.1817T>C | ||
| NR_104215.2:n.1760T>C | ||
| NR_104216.2:n.1016T>C |