Linked Data
ClinVar Variation Id:
242856
ClinVar RCV Id:
RCV000234891
dbSNP Id:
rs879253743
PubMed:
PMID:25956372
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.100975538C>G , CM000664.2:g.100975538C>G | GRCh38 |
| NC_000002.11:g.101592000C>G , CM000664.1:g.101592000C>G | GRCh37 |
| NC_000002.10:g.100958432C>G | NCBI36 |
| NG_023259.1:g.160388C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335681.10:c.1363C>G (NPAS2) MANE Select | ENSP00000338283.5:p.Pro455Ala | |
| ENST00000335681.9:c.1363C>G (NPAS2) | ENSP00000338283.5:p.Pro455Ala | |
| ENST00000450763.1:c.160C>G (NPAS2) | ENSP00000392125.1:p.Pro54Ala | |
| ENST00000471974.1:n.223C>G (NPAS2) | ||
| ENST00000474550.5:n.697C>G (NPAS2) | ||
| NM_002518.3:c.1363C>G (NPAS2) | NP_002509.2:p.Pro455Ala | |
| NR_110213.1:n.447-125G>C (NPAS2-AS1) | ||
| XM_005263953.1:c.1558C>G (NPAS2) | XP_005264010.1:p.Pro520Ala | |
| XM_005263954.1:c.1558C>G (NPAS2) | XP_005264011.1:p.Pro520Ala | |
| XM_005263957.1:c.1444C>G (NPAS2) | XP_005264014.1:p.Pro482Ala | |
| XM_005263959.1:c.1558C>G (NPAS2) | XP_005264016.1:p.Pro520Ala | |
| XM_005263960.1:c.1249C>G (NPAS2) | XP_005264017.1:p.Pro417Ala | |
| XM_005263961.3:c.991C>G (NPAS2) | XP_005264018.1:p.Pro331Ala | |
| XM_011511242.1:c.1273C>G (NPAS2) | XP_011509544.1:p.Pro425Ala | |
| XM_011511243.1:c.1558C>G (NPAS2) | XP_011509545.1:p.Pro520Ala | |
| XR_922928.1:n.1560C>G (NPAS2) | ||
| XM_005263953.2:c.1558C>G (NPAS2) | XP_005264010.1:p.Pro520Ala | |
| XM_005263959.2:c.1558C>G (NPAS2) | XP_005264016.1:p.Pro520Ala | |
| XM_005263960.2:c.1249C>G (NPAS2) | XP_005264017.1:p.Pro417Ala | |
| XM_005263961.4:c.991C>G (NPAS2) | XP_005264018.1:p.Pro331Ala | |
| XM_011511242.2:c.1273C>G (NPAS2) | XP_011509544.1:p.Pro425Ala | |
| XM_011511243.2:c.1558C>G (NPAS2) | XP_011509545.1:p.Pro520Ala | |
| XM_017004214.1:c.1558C>G (NPAS2) | XP_016859703.1:p.Pro520Ala | |
| XM_017004215.1:c.1558C>G (NPAS2) | XP_016859704.1:p.Pro520Ala | |
| XM_017004216.1:c.1558C>G (NPAS2) | XP_016859705.1:p.Pro520Ala | |
| XM_017004217.1:c.1249C>G (NPAS2) | XP_016859706.1:p.Pro417Ala | |
| NM_002518.4:c.1363C>G (NPAS2) MANE Select | NP_002509.2:p.Pro455Ala |