Linked Data
gnomAD v4:
2-43877781-C-T
COSMIC:
COSM4474031
MyVariant Identifiers:
chr2:g.44104920C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43877781C>T , CM000664.2:g.43877781C>T | GRCh38 |
| NC_000002.11:g.44104920C>T , CM000664.1:g.44104920C>T | GRCh37 |
| NC_000002.10:g.43958424C>T | NCBI36 |
| NG_008884.1:g.43818C>T | |
| NG_008884.2:g.50840C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1890C>T MANE Select | ENSP00000272286.2:p.Leu630= | |
| ENST00000272286.2:c.1890C>T | ENSP00000272286.2:p.Leu630= | |
| NM_022437.2:c.1890C>T | NP_071882.1:p.Leu630= | |
| XM_005264483.2:c.1887C>T | XP_005264540.1:p.Leu629= | |
| XM_011533029.1:c.1902C>T | XP_011531331.1:p.Leu634= | |
| XM_011533030.1:c.1899C>T | XP_011531332.1:p.Leu633= | |
| XM_011533031.1:c.1674C>T | XP_011531333.1:p.Leu558= | |
| XR_939707.1:n.2392C>T | ||
| NM_001357321.1:c.1887C>T | NP_001344250.1:p.Leu629= | |
| XM_011533029.2:c.1902C>T | XP_011531331.1:p.Leu634= | |
| XM_011533030.2:c.1899C>T | XP_011531332.1:p.Leu633= | |
| XR_001738891.1:n.2406C>T | ||
| XR_939707.2:n.2406C>T | ||
| NM_022437.3:c.1890C>T MANE Select | NP_071882.1:p.Leu630= | |
| NM_001357321.2:c.1887C>T | NP_001344250.1:p.Leu629= |