Linked Data
ClinVar Variation Id:
1117826
dbSNP Id:
rs143954788
gnomAD v4:
2-219421543-G-T
MyVariant Identifiers:
chr2:g.220286265G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421543G>T , CM000664.2:g.219421543G>T | GRCh38 |
| NC_000002.11:g.220286265G>T , CM000664.1:g.220286265G>T | GRCh37 |
| NC_000002.10:g.219994509G>T | NCBI36 |
| NG_008043.1:g.8167G>T , LRG_380:g.8167G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.701G>T | ||
| ENST00000683013.1:n.615G>T | ||
| ENST00000373960.4:c.1227G>T MANE Select | ENSP00000363071.3:p.Leu409= | |
| ENST00000373960.3:c.1227G>T | ENSP00000363071.3:p.Leu409= | |
| ENST00000477226.5:n.699G>T | ||
| ENST00000492726.1:n.622G>T | ||
| NM_001927.3:c.1227G>T , LRG_380t1:c.1227G>T | NP_001918.3:p.Leu409= | |
| NM_001927.4:c.1227G>T MANE Select | NP_001918.3:p.Leu409= | |
| NM_001382708.1:c.1224G>T | NP_001369637.1:p.Leu408= | |
| NM_001382709.1:c.795G>T | NP_001369638.1:p.Leu265= | |
| NM_001382710.1:c.1158G>T | NP_001369639.1:p.Leu386= | |
| NM_001382711.1:c.1206G>T | NP_001369640.1:p.Leu402= | |
| NM_001382712.1:c.1227G>T | NP_001369641.1:p.Leu409= | |
| NM_001382713.1:c.957G>T | NP_001369642.1:p.Leu319= |