Linked Data
ClinVar Variation Id:
111231
dbSNP Id:
rs121913221
ExAC:
21:34809263 G / A
gnomAD v2:
21-34809263-G-A
gnomAD v3:
21-33436956-G-A
gnomAD v4:
21-33436956-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33436956G>A , CM000683.2:g.33436956G>A | GRCh38 |
| NC_000021.8:g.34809263G>A , CM000683.1:g.34809263G>A | GRCh37 |
| NC_000021.7:g.33731133G>A | NCBI36 |
| NG_007570.2:g.56965G>A , LRG_67:g.56965G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696724.1:c.999G>A (IFNGR2) | ENSP00000512835.1:p.Thr333= | |
| ENST00000290219.11:c.1008G>A (IFNGR2) MANE Select | ENSP00000290219.5:p.Thr336= | |
| ENST00000290219.10:c.1008G>A (IFNGR2) | ENSP00000290219.5:p.Thr336= | |
| ENST00000381995.5:c.1065G>A (IFNGR2) | ENSP00000371425.1:p.Thr355= | |
| ENST00000405436.5:c.771G>A (IFNGR2) | ENSP00000385044.1:p.Thr257= | |
| ENST00000420455.5:c.*2120+2258C>T (TMEM50B) | ENSP00000397773.1:n.*2120+2258C>T | |
| ENST00000421802.1:c.176+4085G>A (IFNGR2) | ||
| ENST00000468874.2:n.652C>T (TMEM50B) | ||
| ENST00000470682.5:n.359+2258C>T (TMEM50B) | ||
| ENST00000484377.5:n.304C>T (TMEM50B) | ||
| NM_005534.3:c.1008G>A , LRG_67t1:c.1008G>A (IFNGR2) | NP_005525.2:p.Thr336= | |
| NR_040016.1:n.2810+2258C>T (TMEM50B) | ||
| XM_005260969.2:c.1065G>A (IFNGR2) | XP_005261026.1:p.Thr355= | |
| XM_011529553.1:c.1083G>A (IFNGR2) | XP_011527855.1:p.Thr361= | |
| XM_011529554.1:c.1014G>A (IFNGR2) | XP_011527856.1:p.Thr338= | |
| XM_011529746.1:c.*2157C>T (TMEM50B) | XP_011528048.1:n.*2157C>T | |
| NM_001329128.1:c.1065G>A (IFNGR2) | NP_001316057.1:p.Thr355= | |
| XM_011529554.2:c.1014G>A (IFNGR2) | XP_011527856.1:p.Thr338= | |
| XM_011529746.2:c.*2157C>T (TMEM50B) | XP_011528048.1:n.*2157C>T | |
| NM_001329128.2:c.1065G>A (IFNGR2) | NP_001316057.1:p.Thr355= | |
| NM_005534.4:c.1008G>A (IFNGR2) MANE Select | NP_005525.2:p.Thr336= | |
| NR_040016.2:n.2775+2258C>T (TMEM50B) |