Linked Data
ClinVar Variation Id:
1790462
ClinVar RCV Id:
RCV002457915
gnomAD v4:
2-43872106-G-A
COSMIC:
COSM3581760
MyVariant Identifiers:
chr2:g.44099245G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43872106G>A , CM000664.2:g.43872106G>A | GRCh38 |
| NC_000002.11:g.44099245G>A , CM000664.1:g.44099245G>A | GRCh37 |
| NC_000002.10:g.43952749G>A | NCBI36 |
| NG_008884.1:g.38143G>A | |
| NG_008884.2:g.45165G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1095G>A MANE Select | ENSP00000272286.2:p.Thr365= | |
| ENST00000644611.1:c.1107G>A | ENSP00000495423.1:p.Thr369= | |
| ENST00000272286.2:c.1095G>A | ENSP00000272286.2:p.Thr365= | |
| NM_022437.2:c.1095G>A | NP_071882.1:p.Thr365= | |
| XM_005264483.2:c.1095G>A | XP_005264540.1:p.Thr365= | |
| XM_011533029.1:c.1107G>A | XP_011531331.1:p.Thr369= | |
| XM_011533030.1:c.1107G>A | XP_011531332.1:p.Thr369= | |
| XM_011533031.1:c.879G>A | XP_011531333.1:p.Thr293= | |
| XR_939707.1:n.1597G>A | ||
| NM_001357321.1:c.1095G>A | NP_001344250.1:p.Thr365= | |
| XM_011533029.2:c.1107G>A | XP_011531331.1:p.Thr369= | |
| XM_011533030.2:c.1107G>A | XP_011531332.1:p.Thr369= | |
| XR_001738891.1:n.1611G>A | ||
| XR_939707.2:n.1611G>A | ||
| NM_022437.3:c.1095G>A MANE Select | NP_071882.1:p.Thr365= | |
| NM_001357321.2:c.1095G>A | NP_001344250.1:p.Thr365= |