Linked Data
ClinVar Variation Id:
2321384
ClinVar RCV Id:
RCV004166551
dbSNP Id:
rs754703629
ExAC:
7:139107012 C / T
gnomAD v2:
7-139107012-C-T
gnomAD v3:
7-139422266-C-T
gnomAD v4:
7-139422266-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.139422266C>T , CM000669.2:g.139422266C>T | GRCh38 |
| NC_000007.13:g.139107012C>T , CM000669.1:g.139107012C>T | GRCh37 |
| NC_000007.12:g.138757552C>T | NCBI36 |
| NG_030012.1:g.86888C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354926.9:c.1105C>T (LUC7L2) MANE Select | ENSP00000347005.4:p.Arg369Trp | |
| ENST00000263545.7:c.1096C>T (LUC7L2) | ENSP00000263545.7:p.Arg366Trp | |
| ENST00000354926.8:c.1105C>T (LUC7L2) | ENSP00000347005.4:p.Arg369Trp | |
| ENST00000456182.5:c.*924C>T (LUC7L2) | ENSP00000393012.1:n.*924C>T | |
| ENST00000482860.1:n.1709C>T (LUC7L2) | ||
| ENST00000498518.1:n.1902C>T (LUC7L2) | ||
| ENST00000541170.7:c.1096C>T (LUC7L2) | ENSP00000441604.1:p.Arg366Trp | |
| ENST00000541515.3:c.1303C>T (FMC1-LUC7L2) | ENSP00000440222.1:p.Arg435Trp | |
| ENST00000619796.4:c.1102C>T (LUC7L2) | ENSP00000483438.1:p.Arg368Trp | |
| NM_001244584.2:c.1303C>T (FMC1-LUC7L2) | NP_001231513.1:p.Arg435Trp | |
| NM_001244585.1:c.1096C>T (LUC7L2) | NP_001231514.1:p.Arg366Trp | |
| NM_001270643.1:c.1102C>T (LUC7L2) | NP_001257572.1:p.Arg368Trp | |
| NM_016019.4:c.1105C>T (LUC7L2) | NP_057103.2:p.Arg369Trp | |
| NR_033999.1:n.227+1019G>A | ||
| NM_016019.5:c.1105C>T (LUC7L2) MANE Select | NP_057103.2:p.Arg369Trp | |
| NM_001244584.3:c.1303C>T (FMC1-LUC7L2) | NP_001231513.1:p.Arg435Trp | |
| NM_001244585.2:c.1096C>T (LUC7L2) | NP_001231514.1:p.Arg366Trp | |
| NM_001270643.2:c.1102C>T (LUC7L2) | NP_001257572.1:p.Arg368Trp |