Linked Data
dbSNP Id:
rs200826158
gnomAD v3:
2-47073860-C-G
gnomAD v4:
2-47073860-C-G
MyVariant Identifiers:
chr2:g.47300999C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47073860C>G , CM000664.2:g.47073860C>G | GRCh38 |
| NC_000002.11:g.47300999C>G , CM000664.1:g.47300999C>G | GRCh37 |
| NC_000002.10:g.47154503C>G | NCBI36 |
| NG_034143.1:g.162732C>G | |
| NG_034143.2:g.162732C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.4347C>G (TTC7A) | ||
| ENST00000698503.1:n.2520C>G (TTC7A) | ||
| ENST00000319190.11:c.2514C>G (TTC7A) MANE Select | ENSP00000316699.5:p.Thr838= | |
| ENST00000651101.1:n.1112C>G (TTC7A) | ||
| ENST00000651415.1:n.1305C>G (TTC7A) | ||
| ENST00000652236.1:n.1215C>G (TTC7A) | ||
| ENST00000652568.1:n.1187C>G (TTC7A) | ||
| ENST00000319190.9:c.2514C>G (TTC7A) | ENSP00000316699.5:p.Thr838= | |
| ENST00000394850.6:c.2586C>G (TTC7A) | ENSP00000378320.2:p.Thr862= | |
| ENST00000409245.5:c.2412C>G (TTC7A) | ENSP00000386307.1:p.Thr804= | |
| ENST00000409825.5:c.2462C>G (TTC7A) | ||
| ENST00000422269.1:c.787-7723G>C | ||
| ENST00000441914.5:c.2355C>G (TTC7A) | ||
| ENST00000464527.2:n.399-7723G>C (STPG4) | ||
| ENST00000482548.1:n.402-5304G>C (STPG4) | ||
| ENST00000484061.5:n.1621C>G (TTC7A) | ||
| ENST00000491786.5:n.1918C>G (TTC7A) | ||
| ENST00000496939.1:n.416-26941G>C (STPG4) | ||
| NM_001288951.1:c.2586C>G (TTC7A) | NP_001275880.1:p.Thr862= | |
| NM_001288953.1:c.2412C>G (TTC7A) | NP_001275882.1:p.Thr804= | |
| NM_001288955.1:c.1452C>G (TTC7A) | NP_001275884.1:p.Thr484= | |
| NM_020458.3:c.2514C>G (TTC7A) | NP_065191.2:p.Thr838= | |
| XM_005264439.2:c.2157C>G (TTC7A) | XP_005264496.1:p.Thr719= | |
| XM_011532998.1:c.2157C>G (TTC7A) | XP_011531300.1:p.Thr719= | |
| XM_011533000.1:c.1734C>G (TTC7A) | XP_011531302.1:p.Thr578= | |
| XM_011533001.1:c.1467C>G (TTC7A) | XP_011531303.1:p.Thr489= | |
| XM_005264439.4:c.2157C>G (TTC7A) | XP_005264496.1:p.Thr719= | |
| XM_011532998.3:c.2157C>G (TTC7A) | XP_011531300.1:p.Thr719= | |
| XM_011533000.3:c.1734C>G (TTC7A) | XP_011531302.1:p.Thr578= | |
| XM_011533001.3:c.1467C>G (TTC7A) | XP_011531303.1:p.Thr489= | |
| XM_017004524.1:c.2397C>G (TTC7A) | XP_016860013.1:p.Thr799= | |
| XM_017004525.1:c.2346C>G (TTC7A) | XP_016860014.1:p.Thr782= | |
| XM_017004526.1:c.2265C>G (TTC7A) | XP_016860015.1:p.Thr755= | |
| XM_024453013.1:c.1479C>G (TTC7A) | XP_024308781.1:p.Thr493= | |
| NM_020458.4:c.2514C>G (TTC7A) MANE Select | NP_065191.2:p.Thr838= | |
| NM_001288951.2:c.2586C>G (TTC7A) | NP_001275880.1:p.Thr862= | |
| NM_001288953.2:c.2412C>G (TTC7A) | NP_001275882.1:p.Thr804= | |
| NM_001288955.2:c.1452C>G (TTC7A) | NP_001275884.1:p.Thr484= |