Linked Data
ClinVar Variation Id:
329980
ClinVar RCV Id:
RCV000332478
dbSNP Id:
rs113926789
gnomAD v2:
19-51891193-G-A
gnomAD v3:
19-51387939-G-A
gnomAD v4:
19-51387939-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51387939G>A , CM000681.2:g.51387939G>A | GRCh38 |
| NC_000019.9:g.51891193G>A , CM000681.1:g.51891193G>A | GRCh37 |
| NC_000019.8:g.56583005G>A | NCBI36 |
| NG_012924.1:g.5018C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000596399.2:c.-27C>T (LIM2) MANE Select | ENSP00000472090.2:n.-27C>T | |
| ENST00000221973.7:c.-27C>T (LIM2) | ENSP00000221973.2:n.-27C>T | |
| ENST00000596399.1:c.-27C>T (LIM2) | ENSP00000472090.1:n.-27C>T | |
| NM_001161748.1:c.-27C>T (LIM2) | NP_001155220.1:n.-27C>T | |
| NM_030657.3:c.-27C>T (LIM2) | NP_085915.2:n.-27C>T | |
| XR_002958395.1:n.522+495G>A (LIM2-AS1) | ||
| XR_002958396.1:n.522+495G>A (LIM2-AS1) | ||
| XR_002958397.1:n.522+495G>A (LIM2-AS1) | ||
| XR_002958398.1:n.522+495G>A (LIM2-AS1) | ||
| NM_001161748.2:c.-27C>T (LIM2) MANE Select | NP_001155220.1:n.-27C>T | |
| NM_030657.4:c.-27C>T (LIM2) | NP_085915.2:n.-27C>T |