Linked Data
ClinVar Variation Id:
391837
dbSNP Id:
rs762989436
ExAC:
2:47168739 G / A
gnomAD v2:
2-47168739-G-A
gnomAD v3:
2-46941600-G-A
gnomAD v4:
2-46941600-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46941600G>A , CM000664.2:g.46941600G>A | GRCh38 |
| NC_000002.11:g.47168739G>A , CM000664.1:g.47168739G>A | GRCh37 |
| NC_000002.10:g.47022243G>A | NCBI36 |
| NG_016428.2:g.5256C>T , LRG_566:g.5256C>T | |
| NG_034143.1:g.30472G>A | |
| NG_034143.2:g.30472G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.804-8763G>A (TTC7A) | ||
| ENST00000698501.1:n.506-8763G>A (TTC7A) | ||
| ENST00000698502.1:n.166-8763G>A (TTC7A) | ||
| ENST00000319190.11:c.59G>A (TTC7A) MANE Select | ENSP00000316699.5:p.Cys20Tyr | |
| ENST00000319190.9:c.59G>A (TTC7A) | ENSP00000316699.5:p.Cys20Tyr | |
| ENST00000394850.6:c.59G>A (TTC7A) | ENSP00000378320.2:p.Cys20Tyr | |
| ENST00000409147.1:c.-36C>T (MCFD2) | ENSP00000387082.1:n.-36C>T | |
| ENST00000409207.5:c.-35C>T (MCFD2) | ENSP00000386386.1:n.-35C>T | |
| ENST00000409245.5:c.83-8763G>A (TTC7A) | ENSP00000386307.1:n.83-8763G>A | |
| ENST00000441914.5:c.58G>A (TTC7A) | ||
| ENST00000444761.6:c.64C>T (MCFD2) | ENSP00000394647.2:p.Gln22Ter | |
| ENST00000461601.5:n.326G>A (TTC7A) | ||
| ENST00000470873.1:n.174C>T (MCFD2) | ||
| ENST00000479225.1:n.115C>T (MCFD2) | ||
| ENST00000487121.1:n.128C>T (MCFD2) | ||
| NM_001171508.2:c.-35C>T , LRG_566t3:c.-35C>T (MCFD2) | NP_001164979.1:n.-35C>T | |
| NM_001171511.2:c.64C>T (MCFD2) | NP_001164982.1:p.Gln22Ter | |
| NM_001288951.1:c.59G>A (TTC7A) | NP_001275880.1:p.Cys20Tyr | |
| NM_001288953.1:c.83-8763G>A (TTC7A) | NP_001275882.1:n.83-8763G>A | |
| NM_001288955.1:c.-846G>A (TTC7A) | NP_001275884.1:n.-846G>A | |
| NM_020458.3:c.59G>A (TTC7A) | NP_065191.2:p.Cys20Tyr | |
| XM_011532999.1:c.59G>A (TTC7A) | XP_011531301.1:p.Cys20Tyr | |
| XR_939696.1:n.364G>A (TTC7A) | ||
| XM_005264439.4:c.-231-8763G>A (TTC7A) | XP_005264496.1:n.-231-8763G>A | |
| XM_011532998.3:c.-296-8763G>A (TTC7A) | XP_011531300.1:n.-296-8763G>A | |
| XM_011532999.2:c.59G>A (TTC7A) | XP_011531301.1:p.Cys20Tyr | |
| XM_017004524.1:c.59G>A (TTC7A) | XP_016860013.1:p.Cys20Tyr | |
| XM_017004526.1:c.59G>A (TTC7A) | XP_016860015.1:p.Cys20Tyr | |
| XM_017004529.1:c.59G>A (TTC7A) | XP_016860018.1:p.Cys20Tyr | |
| XR_001738853.2:n.371G>A (TTC7A) | ||
| XR_001738854.1:n.370G>A (TTC7A) | ||
| NM_020458.4:c.59G>A (TTC7A) MANE Select | NP_065191.2:p.Cys20Tyr | |
| NM_001288951.2:c.59G>A (TTC7A) | NP_001275880.1:p.Cys20Tyr | |
| NM_001288953.2:c.83-8763G>A (TTC7A) | NP_001275882.1:n.83-8763G>A | |
| NM_001288955.2:c.-846G>A (TTC7A) | NP_001275884.1:n.-846G>A | |
| NM_001171511.3:c.64C>T (MCFD2) | NP_001164982.1:p.Gln22Ter |