Linked Data
ClinVar Variation Id:
2402602
ClinVar RCV Id:
RCV004234527
dbSNP Id:
rs150562585
ExAC:
2:170557819 G / A
gnomAD v2:
2-170557819-G-A
gnomAD v3:
2-169701309-G-A
gnomAD v4:
2-169701309-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169701309G>A , CM000664.2:g.169701309G>A | GRCh38 |
| NC_000002.11:g.170557819G>A , CM000664.1:g.170557819G>A | GRCh37 |
| NC_000002.10:g.170266065G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359744.8:c.338G>A (PHOSPHO2) MANE Select | ENSP00000352782.3:p.Ser113Asn | |
| ENST00000272797.8:c.-3+3778G>A (KLHL23) | ENSP00000272797.4:n.-3+3778G>A | |
| ENST00000359744.7:c.338G>A (PHOSPHO2) | ENSP00000352782.3:p.Ser113Asn | |
| ENST00000438710.5:c.338G>A (PHOSPHO2) | ENSP00000411844.1:p.Ser113Asn | |
| ENST00000498202.6:c.-267+3327G>A (KLHL23) | ENSP00000474581.1:n.-267+3327G>A | |
| ENST00000602521.1:c.-267+3778G>A (KLHL23) | ENSP00000475081.1:n.-267+3778G>A | |
| ENST00000616481.4:c.338G>A (PHOSPHO2) | ENSP00000481680.1:p.Ser113Asn | |
| ENST00000616524.4:c.338G>A (PHOSPHO2) | ENSP00000481046.1:p.Ser113Asn | |
| ENST00000617738.4:c.338G>A (PHOSPHO2) | ENSP00000481857.1:p.Ser113Asn | |
| NM_001008489.3:c.338G>A (PHOSPHO2) | NP_001008489.1:p.Ser113Asn | |
| NM_001199285.1:c.338G>A (PHOSPHO2) | NP_001186214.1:p.Ser113Asn | |
| NM_001199286.1:c.338G>A (PHOSPHO2) | NP_001186215.1:p.Ser113Asn | |
| NM_001199287.1:c.338G>A (PHOSPHO2) | NP_001186216.1:p.Ser113Asn | |
| NM_001199288.1:c.338G>A (PHOSPHO2) | NP_001186217.1:p.Ser113Asn | |
| NM_001199290.1:c.-3+3778G>A | NP_001186219.1:n.-3+3778G>A | |
| NM_001199290.2:c.-3+3778G>A | NP_001186219.1:n.-3+3778G>A | |
| NR_144936.1:n.396+3778G>A | ||
| NM_001008489.4:c.338G>A (PHOSPHO2) MANE Select | NP_001008489.1:p.Ser113Asn | |
| NM_001199290.3:c.-3+3778G>A | NP_001186219.1:n.-3+3778G>A | |
| NR_144936.2:n.358+3778G>A | ||
| NM_001199285.2:c.338G>A (PHOSPHO2) | NP_001186214.1:p.Ser113Asn | |
| NM_001199286.2:c.338G>A (PHOSPHO2) | NP_001186215.1:p.Ser113Asn | |
| NM_001199287.2:c.338G>A (PHOSPHO2) | NP_001186216.1:p.Ser113Asn | |
| NM_001199288.2:c.338G>A (PHOSPHO2) | NP_001186217.1:p.Ser113Asn |