Linked Data
dbSNP Id:
rs2305160
ExAC:
2:101591304 A / G
gnomAD v2:
2-101591304-A-G
gnomAD v3:
2-100974842-A-G
gnomAD v4:
2-100974842-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.100974842A>G , CM000664.2:g.100974842A>G | GRCh38 |
| NC_000002.11:g.101591304A>G , CM000664.1:g.101591304A>G | GRCh37 |
| NC_000002.10:g.100957736A>G | NCBI36 |
| NG_023259.1:g.159692A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335681.10:c.1180A>G (NPAS2) MANE Select | ENSP00000338283.5:p.Thr394Ala | |
| ENST00000335681.9:c.1180A>G (NPAS2) | ENSP00000338283.5:p.Thr394Ala | |
| ENST00000471974.1:n.40A>G (NPAS2) | ||
| ENST00000474550.5:n.514A>G (NPAS2) | ||
| NM_002518.3:c.1180A>G (NPAS2) | NP_002509.2:p.Thr394Ala | |
| NR_110213.1:n.575+443T>C (NPAS2-AS1) | ||
| XM_005263953.1:c.1375A>G (NPAS2) | XP_005264010.1:p.Thr459Ala | |
| XM_005263954.1:c.1375A>G (NPAS2) | XP_005264011.1:p.Thr459Ala | |
| XM_005263957.1:c.1261A>G (NPAS2) | XP_005264014.1:p.Thr421Ala | |
| XM_005263959.1:c.1375A>G (NPAS2) | XP_005264016.1:p.Thr459Ala | |
| XM_005263960.1:c.1066A>G (NPAS2) | XP_005264017.1:p.Thr356Ala | |
| XM_005263961.3:c.808A>G (NPAS2) | XP_005264018.1:p.Thr270Ala | |
| XM_011511242.1:c.1090A>G (NPAS2) | XP_011509544.1:p.Thr364Ala | |
| XM_011511243.1:c.1375A>G (NPAS2) | XP_011509545.1:p.Thr459Ala | |
| XR_922928.1:n.1377A>G (NPAS2) | ||
| XM_005263953.2:c.1375A>G (NPAS2) | XP_005264010.1:p.Thr459Ala | |
| XM_005263959.2:c.1375A>G (NPAS2) | XP_005264016.1:p.Thr459Ala | |
| XM_005263960.2:c.1066A>G (NPAS2) | XP_005264017.1:p.Thr356Ala | |
| XM_005263961.4:c.808A>G (NPAS2) | XP_005264018.1:p.Thr270Ala | |
| XM_011511242.2:c.1090A>G (NPAS2) | XP_011509544.1:p.Thr364Ala | |
| XM_011511243.2:c.1375A>G (NPAS2) | XP_011509545.1:p.Thr459Ala | |
| XM_017004214.1:c.1375A>G (NPAS2) | XP_016859703.1:p.Thr459Ala | |
| XM_017004215.1:c.1375A>G (NPAS2) | XP_016859704.1:p.Thr459Ala | |
| XM_017004216.1:c.1375A>G (NPAS2) | XP_016859705.1:p.Thr459Ala | |
| XM_017004217.1:c.1066A>G (NPAS2) | XP_016859706.1:p.Thr356Ala | |
| NM_002518.4:c.1180A>G (NPAS2) MANE Select | NP_002509.2:p.Thr394Ala |