Linked Data
ClinVar Variation Id:
2943439
ClinVar RCV Id:
RCV003800557
MyVariant Identifiers:
chr2:g.220286256G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421534G>T , CM000664.2:g.219421534G>T | GRCh38 |
| NC_000002.11:g.220286256G>T , CM000664.1:g.220286256G>T | GRCh37 |
| NC_000002.10:g.219994500G>T | NCBI36 |
| NG_008043.1:g.8158G>T , LRG_380:g.8158G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.692G>T | ||
| ENST00000683013.1:n.606G>T | ||
| ENST00000373960.4:c.1218G>T MANE Select | ENSP00000363071.3:p.Arg406= | |
| ENST00000373960.3:c.1218G>T | ENSP00000363071.3:p.Arg406= | |
| ENST00000477226.5:n.690G>T | ||
| ENST00000492726.1:n.613G>T | ||
| NM_001927.3:c.1218G>T , LRG_380t1:c.1218G>T | NP_001918.3:p.Arg406= | |
| NM_001927.4:c.1218G>T MANE Select | NP_001918.3:p.Arg406= | |
| NM_001382708.1:c.1215G>T | NP_001369637.1:p.Arg405= | |
| NM_001382709.1:c.786G>T | NP_001369638.1:p.Arg262= | |
| NM_001382710.1:c.1149G>T | NP_001369639.1:p.Arg383= | |
| NM_001382711.1:c.1197G>T | NP_001369640.1:p.Arg399= | |
| NM_001382712.1:c.1218G>T | NP_001369641.1:p.Arg406= | |
| NM_001382713.1:c.948G>T | NP_001369642.1:p.Arg316= |