Linked Data
dbSNP Id:
rs1481497120
gnomAD v2:
21-34809600-T-C
gnomAD v3:
21-33437293-T-C
gnomAD v4:
21-33437293-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33437293T>C , CM000683.2:g.33437293T>C | GRCh38 |
| NC_000021.8:g.34809600T>C , CM000683.1:g.34809600T>C | GRCh37 |
| NC_000021.7:g.33731470T>C | NCBI36 |
| NG_007570.2:g.57302T>C , LRG_67:g.57302T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696724.1:c.1336T>C (IFNGR2) | ENSP00000512835.1:n.1336T>C | |
| ENST00000290219.11:c.*331T>C (IFNGR2) MANE Select | ENSP00000290219.5:n.*331T>C | |
| ENST00000290219.10:c.*331T>C (IFNGR2) | ENSP00000290219.5:n.*331T>C | |
| ENST00000381995.5:c.*331T>C (IFNGR2) | ENSP00000371425.1:n.*331T>C | |
| ENST00000405436.5:c.*331T>C (IFNGR2) | ENSP00000385044.1:n.*331T>C | |
| ENST00000420455.5:c.*2120+1921A>G (TMEM50B) | ENSP00000397773.1:n.*2120+1921A>G | |
| ENST00000421802.1:c.176+4422T>C (IFNGR2) | ||
| ENST00000468874.2:n.616-301A>G (TMEM50B) | ||
| ENST00000470682.5:n.359+1921A>G (TMEM50B) | ||
| ENST00000484377.5:n.268-301A>G (TMEM50B) | ||
| NM_005534.3:c.*331T>C , LRG_67t1:c.*331T>C (IFNGR2) | NP_005525.2:n.*331T>C | |
| NR_040016.1:n.2810+1921A>G (TMEM50B) | ||
| XM_005260969.2:c.*331T>C (IFNGR2) | XP_005261026.1:n.*331T>C | |
| XM_011529553.1:c.*331T>C (IFNGR2) | XP_011527855.1:n.*331T>C | |
| XM_011529554.1:c.*331T>C (IFNGR2) | XP_011527856.1:n.*331T>C | |
| XM_011529746.1:c.*2121-301A>G (TMEM50B) | XP_011528048.1:n.*2121-301A>G | |
| NM_001329128.1:c.*331T>C (IFNGR2) | NP_001316057.1:n.*331T>C | |
| XM_011529554.2:c.*331T>C (IFNGR2) | XP_011527856.1:n.*331T>C | |
| XM_011529746.2:c.*2121-301A>G (TMEM50B) | XP_011528048.1:n.*2121-301A>G | |
| NM_001329128.2:c.*331T>C (IFNGR2) | NP_001316057.1:n.*331T>C | |
| NM_005534.4:c.*331T>C (IFNGR2) MANE Select | NP_005525.2:n.*331T>C | |
| NR_040016.2:n.2775+1921A>G (TMEM50B) |