Linked Data
ClinVar Variation Id:
1535271
ClinVar RCV Id:
RCV002090009
dbSNP Id:
rs1011666716
gnomAD v2:
14-105781325-C-T
gnomAD v3:
14-105314988-C-T
gnomAD v4:
14-105314988-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.105314988C>T , CM000676.2:g.105314988C>T | GRCh38 |
| NC_000014.8:g.105781325C>T , CM000676.1:g.105781325C>T | GRCh37 |
| NC_000014.7:g.104852370C>T | NCBI36 |
| NG_029489.1:g.5590G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685365.1:c.70C>T (PACS2) | ENSP00000509432.1:p.Leu24= | |
| ENST00000686173.1:n.106C>T (PACS2) | ||
| ENST00000686461.1:c.70C>T (PACS2) | ENSP00000510561.1:p.Leu24= | |
| ENST00000689240.1:n.13C>T (PACS2) | ||
| ENST00000447393.6:c.70C>T (PACS2) MANE Select | ENSP00000393559.2:p.Leu24= | |
| ENST00000325438.12:c.70C>T (PACS2) | ENSP00000321834.8:p.Leu24= | |
| ENST00000327359.7:c.-162+334G>A (BRF1) | ENSP00000329029.3:n.-162+334G>A | |
| ENST00000430725.6:c.-83+14009C>T (PACS2) | ENSP00000393524.2:n.-83+14009C>T | |
| ENST00000440513.7:c.-162+334G>A (BRF1) | ENSP00000388877.3:n.-162+334G>A | |
| ENST00000447393.5:c.70C>T (PACS2) | ENSP00000393559.2:p.Leu24= | |
| ENST00000547217.5:c.70C>T (PACS2) | ENSP00000449525.1:p.Leu24= | |
| ENST00000548265.1:n.99C>T (PACS2) | ||
| ENST00000550692.1:c.-162+354G>A (BRF1) | ENSP00000448823.1:n.-162+354G>A | |
| NM_001100913.2:c.70C>T (PACS2) | NP_001094383.2:p.Leu24= | |
| NM_001242786.1:c.-162+334G>A (BRF1) | NP_001229715.1:n.-162+334G>A | |
| NM_001242787.1:c.-162+334G>A (BRF1) | NP_001229716.1:n.-162+334G>A | |
| NM_001243127.2:c.-83+14009C>T (PACS2) | NP_001230056.1:n.-83+14009C>T | |
| NM_015197.3:c.70C>T (PACS2) | NP_056012.2:p.Leu24= | |
| XM_005267462.3:c.70C>T (PACS2) | XP_005267519.1:p.Leu24= | |
| XM_005267463.3:c.70C>T (PACS2) | XP_005267520.1:p.Leu24= | |
| XM_006720085.2:c.70C>T (PACS2) | XP_006720148.1:p.Leu24= | |
| XM_006720086.2:c.70C>T (PACS2) | XP_006720149.1:p.Leu24= | |
| XM_006720087.2:c.70C>T (PACS2) | XP_006720150.1:p.Leu24= | |
| XM_006720088.2:c.70C>T (PACS2) | XP_006720151.1:p.Leu24= | |
| XM_006720089.2:c.70C>T (PACS2) | XP_006720152.1:p.Leu24= | |
| XM_006720090.1:c.70C>T (PACS2) | XP_006720153.1:p.Leu24= | |
| XM_006720091.1:c.70C>T (PACS2) | XP_006720154.1:p.Leu24= | |
| XM_006720092.2:c.70C>T (PACS2) | XP_006720155.1:p.Leu24= | |
| XM_011536585.1:c.-83+14009C>T (PACS2) | XP_011534887.1:n.-83+14009C>T | |
| XM_006720090.2:c.70C>T (PACS2) | XP_006720153.1:p.Leu24= | |
| XM_006720091.2:c.70C>T (PACS2) | XP_006720154.1:p.Leu24= | |
| XM_006720092.3:c.70C>T (PACS2) | XP_006720155.1:p.Leu24= | |
| XM_017021105.2:c.70C>T (PACS2) | XP_016876594.1:p.Leu24= | |
| XM_017021106.2:c.70C>T (PACS2) | XP_016876595.1:p.Leu24= | |
| XM_017021107.2:c.70C>T (PACS2) | XP_016876596.1:p.Leu24= | |
| XM_017021108.2:c.70C>T (PACS2) | XP_016876597.1:p.Leu24= | |
| XM_017021109.2:c.70C>T (PACS2) | XP_016876598.1:p.Leu24= | |
| XM_017021110.2:c.70C>T (PACS2) | XP_016876599.1:p.Leu24= | |
| XM_017021111.2:c.-83+14009C>T (PACS2) | XP_016876600.1:n.-83+14009C>T | |
| XM_017021112.2:c.-83+14009C>T (PACS2) | XP_016876601.1:n.-83+14009C>T | |
| XR_001750200.2:n.129C>T (PACS2) | ||
| NM_001100913.3:c.70C>T (PACS2) MANE Select | NP_001094383.2:p.Leu24= | |
| NM_001243127.3:c.-83+14009C>T (PACS2) | NP_001230056.1:n.-83+14009C>T | |
| NM_015197.4:c.70C>T (PACS2) | NP_056012.2:p.Leu24= | |
| NM_001242786.2:c.-162+334G>A (BRF1) | NP_001229715.1:n.-162+334G>A | |
| NM_001242787.2:c.-162+334G>A (BRF1) | NP_001229716.1:n.-162+334G>A |