Linked Data
ClinVar Variation Id:
329978
ClinVar RCV Id:
RCV000385729
dbSNP Id:
rs202081431
ExAC:
19:51890658 C / T
gnomAD v2:
19-51890658-C-T
gnomAD v3:
19-51387404-C-T
gnomAD v4:
19-51387404-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51387404C>T , CM000681.2:g.51387404C>T | GRCh38 |
| NC_000019.9:g.51890658C>T , CM000681.1:g.51890658C>T | GRCh37 |
| NC_000019.8:g.56582470C>T | NCBI36 |
| NG_012924.1:g.5553G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000596399.2:c.40G>A (LIM2) MANE Select | ENSP00000472090.2:p.Val14Met | |
| ENST00000221973.7:c.40G>A (LIM2) | ENSP00000221973.2:p.Val14Met | |
| ENST00000596399.1:c.40G>A (LIM2) | ENSP00000472090.1:p.Val14Met | |
| NM_001161748.1:c.40G>A (LIM2) | NP_001155220.1:p.Val14Met | |
| NM_030657.3:c.40G>A (LIM2) | NP_085915.2:p.Val14Met | |
| XR_002958395.1:n.482C>T (LIM2-AS1) | ||
| XR_002958396.1:n.482C>T (LIM2-AS1) | ||
| XR_002958397.1:n.482C>T (LIM2-AS1) | ||
| XR_002958398.1:n.482C>T (LIM2-AS1) | ||
| NM_001161748.2:c.40G>A (LIM2) MANE Select | NP_001155220.1:p.Val14Met | |
| NM_030657.4:c.40G>A (LIM2) | NP_085915.2:p.Val14Met |