Linked Data
ClinVar Variation Id:
1621613
ClinVar RCV Id:
RCV002101792
dbSNP Id:
rs2104195791
gnomAD v4:
2-73601277-C-T
MyVariant Identifiers:
chr2:g.73828404C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601277C>T , CM000664.2:g.73601277C>T | GRCh38 |
| NC_000002.11:g.73828404C>T , CM000664.1:g.73828404C>T | GRCh37 |
| NC_000002.10:g.73681912C>T | NCBI36 |
| NG_011690.1:g.220525C>T , LRG_741:g.220525C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11574C>T | ENSP00000507671.1:p.Ile3858= | |
| ENST00000682801.1:c.11167-908C>T | ENSP00000507862.1:n.11167-908C>T | |
| ENST00000682859.1:c.11574C>T | ENSP00000508222.1:p.Ile3858= | |
| ENST00000683791.1:c.4660C>T | ||
| ENST00000684460.1:c.8855C>T | ||
| ENST00000684548.1:c.11574C>T | ENSP00000507421.1:p.Ile3858= | |
| ENST00000684590.1:c.6021C>T | ENSP00000507376.1:p.Ile2007= | |
| ENST00000684656.1:c.9039C>T | ||
| ENST00000613296.6:c.11955C>T MANE Select | ENSP00000482968.1:p.Ile3985= | |
| ENST00000651057.1:c.2109C>T | ENSP00000498504.1:p.Ile703= | |
| ENST00000651434.1:c.3311C>T | ||
| ENST00000651750.1:c.1260+396C>T | ||
| ENST00000652487.1:c.3126C>T | ||
| ENST00000464408.3:n.130C>T | ||
| ENST00000484298.5:c.11829C>T | ENSP00000478155.1:p.Ile3943= | |
| ENST00000613296.4:c.11955C>T | ENSP00000482968.1:p.Ile3985= | |
| ENST00000620466.4:n.5758C>T | ||
| NM_015120.4:c.11958C>T , LRG_741t1:c.11958C>T | NP_055935.4:p.Ile3986= | |
| NM_001378454.1:c.11955C>T MANE Select | NP_001365383.1:p.Ile3985= |