Linked Data
ClinVar Variation Id:
799809
dbSNP Id:
rs1572969339
gnomAD v4:
2-73490101-C-T
MyVariant Identifiers:
chr2:g.73717228C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490101C>T , CM000664.2:g.73490101C>T | GRCh38 |
| NC_000002.11:g.73717228C>T , CM000664.1:g.73717228C>T | GRCh37 |
| NC_000002.10:g.73570736C>T | NCBI36 |
| NG_011690.1:g.109349C>T , LRG_741:g.109349C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7761C>T | ENSP00000507671.1:p.Ser2587= | |
| ENST00000682801.1:c.7761C>T | ENSP00000507862.1:p.Ser2587= | |
| ENST00000682859.1:c.7761C>T | ENSP00000508222.1:p.Ser2587= | |
| ENST00000683791.1:c.1153C>T | ||
| ENST00000684460.1:c.5213C>T | ||
| ENST00000684548.1:c.7761C>T | ENSP00000507421.1:p.Ser2587= | |
| ENST00000684590.1:c.2208C>T | ENSP00000507376.1:p.Ser736= | |
| ENST00000684656.1:c.5213C>T | ||
| ENST00000613296.6:c.8142C>T MANE Select | ENSP00000482968.1:p.Ser2714= | |
| ENST00000651434.1:c.896-29674C>T | ||
| ENST00000423048.5:c.2973C>T | ENSP00000399833.1:p.Ser991= | |
| ENST00000484298.5:c.8016C>T | ENSP00000478155.1:p.Ser2672= | |
| ENST00000613296.4:c.8142C>T | ENSP00000482968.1:p.Ser2714= | |
| ENST00000614410.4:c.8142C>T | ENSP00000479094.1:p.Ser2714= | |
| ENST00000620466.4:n.1945C>T | ||
| NM_015120.4:c.8145C>T , LRG_741t1:c.8145C>T | NP_055935.4:p.Ser2715= | |
| NM_001378454.1:c.8142C>T MANE Select | NP_001365383.1:p.Ser2714= |