Linked Data
ClinVar Variation Id:
1133845
ClinVar RCV Id:
RCV001468580
dbSNP Id:
rs771012953
MyVariant Identifiers:
chr2:g.215657040T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214792316T>A , CM000664.2:g.214792316T>A | GRCh38 |
| NC_000002.11:g.215657040T>A , CM000664.1:g.215657040T>A | GRCh37 |
| NC_000002.10:g.215365285T>A | NCBI36 |
| NG_012047.2:g.22389A>T | |
| NG_012047.3:g.22396A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260947.9:c.345A>T MANE Select | ENSP00000260947.4:p.Leu115= | |
| ENST00000421162.2:c.215+4745A>T | ENSP00000392245.2:n.215+4745A>T | |
| ENST00000613192.2:c.158+17096A>T | ENSP00000483275.2:n.158+17096A>T | |
| ENST00000613374.5:c.158+17096A>T | ENSP00000484464.1:n.158+17096A>T | |
| ENST00000613706.5:c.345A>T | ENSP00000484976.2:p.Leu115= | |
| ENST00000617164.5:c.288A>T | ENSP00000480470.1:p.Leu96= | |
| ENST00000619009.5:c.345A>T | ENSP00000482293.1:p.Leu115= | |
| ENST00000650978.1:c.187A>T | ||
| ENST00000260947.8:c.345A>T | ENSP00000260947.4:p.Leu115= | |
| ENST00000421162.1:c.215+4745A>T | ENSP00000392245.1:n.215+4745A>T | |
| ENST00000455743.5:c.215+4745A>T | ENSP00000412186.1:n.215+4745A>T | |
| ENST00000471787.1:n.260-10807A>T | ||
| ENST00000613192.1:c.73+17096A>T | ENSP00000483275.1:n.73+17096A>T | |
| ENST00000613374.4:c.158+17096A>T | ENSP00000484464.1:n.158+17096A>T | |
| ENST00000613706.4:c.215+4745A>T | ENSP00000484976.1:n.215+4745A>T | |
| ENST00000617164.4:c.288A>T | ENSP00000480470.1:p.Leu96= | |
| ENST00000619009.4:c.345A>T | ENSP00000482293.1:p.Leu115= | |
| ENST00000620057.4:c.345A>T | ENSP00000481988.1:p.Leu115= | |
| NM_000465.3:c.345A>T | NP_000456.2:p.Leu115= | |
| NM_001282543.1:c.288A>T | NP_001269472.1:p.Leu96= | |
| NM_001282545.1:c.215+4745A>T | NP_001269474.1:n.215+4745A>T | |
| NM_001282548.1:c.158+17096A>T | NP_001269477.1:n.158+17096A>T | |
| NM_001282549.1:c.345A>T | NP_001269478.1:p.Leu115= | |
| NR_104212.1:n.357+4745A>T | ||
| NR_104215.1:n.301-10807A>T | ||
| NR_104216.1:n.487A>T | ||
| XM_011511567.1:c.291A>T | XP_011509869.1:p.Leu97= | |
| XM_011511568.1:c.345A>T | XP_011509870.1:p.Leu115= | |
| XM_017004613.1:c.444A>T | XP_016860102.1:p.Leu148= | |
| XM_017004614.1:c.444A>T | XP_016860103.1:p.Leu148= | |
| XR_002959322.1:n.535A>T | ||
| NM_000465.4:c.345A>T MANE Select | NP_000456.2:p.Leu115= | |
| NM_001282543.2:c.288A>T | NP_001269472.1:p.Leu96= | |
| NM_001282545.2:c.215+4745A>T | NP_001269474.1:n.215+4745A>T | |
| NM_001282548.2:c.158+17096A>T | NP_001269477.1:n.158+17096A>T | |
| NM_001282549.2:c.345A>T | NP_001269478.1:p.Leu115= | |
| NR_104212.2:n.329+4745A>T | ||
| NR_104215.2:n.273-10807A>T | ||
| NR_104216.2:n.459A>T |