Linked Data
dbSNP Id:
rs200257202
ExAC:
16:55601165 C / A
gnomAD v2:
16-55601165-C-A
gnomAD v3:
16-55567253-C-A
gnomAD v4:
16-55567253-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55567253C>A , CM000678.2:g.55567253C>A | GRCh38 |
| NC_000016.9:g.55601165C>A , CM000678.1:g.55601165C>A | GRCh37 |
| NC_000016.8:g.54158666C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262134.10:c.1216-7378C>A (LPCAT2) MANE Select | ENSP00000262134.5:n.1216-7378C>A | |
| ENST00000457326.3:c.497C>A (CAPNS2) MANE Select | ENSP00000400882.2:p.Ser166Tyr | |
| ENST00000262134.9:c.1216-7378C>A (LPCAT2) | ENSP00000262134.5:n.1216-7378C>A | |
| ENST00000457326.2:c.497C>A (CAPNS2) | ENSP00000400882.2:p.Ser166Tyr | |
| ENST00000563095.5:n.614-7378C>A (LPCAT2) | ||
| ENST00000565056.1:n.90-7378C>A (LPCAT2) | ||
| ENST00000566915.5:n.1298-7378C>A (LPCAT2) | ||
| ENST00000615823.1:c.340-7378C>A (LPCAT2) | ENSP00000483225.1:n.340-7378C>A | |
| NM_017839.4:c.1216-7378C>A (LPCAT2) | NP_060309.2:n.1216-7378C>A | |
| NM_032330.1:c.497C>A (CAPNS2) | NP_115706.1:p.Ser166Tyr | |
| XM_006721211.2:c.1048-7378C>A (LPCAT2) | XP_006721274.1:n.1048-7378C>A | |
| XM_011523169.1:c.406-7378C>A (LPCAT2) | XP_011521471.1:n.406-7378C>A | |
| NM_032330.2:c.497C>A (CAPNS2) | NP_115706.1:p.Ser166Tyr | |
| XM_011523169.3:c.406-7378C>A (LPCAT2) | XP_011521471.1:n.406-7378C>A | |
| XM_017023376.1:c.1048-7378C>A (LPCAT2) | XP_016878865.1:n.1048-7378C>A | |
| NM_017839.5:c.1216-7378C>A (LPCAT2) MANE Select | NP_060309.2:n.1216-7378C>A | |
| NM_032330.3:c.497C>A (CAPNS2) MANE Select | NP_115706.1:p.Ser166Tyr |