Linked Data
ClinVar Variation Id:
1761433
ClinVar RCV Id:
RCV002416926
MyVariant Identifiers:
chr2:g.73717057T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73489930T>C , CM000664.2:g.73489930T>C | GRCh38 |
| NC_000002.11:g.73717057T>C , CM000664.1:g.73717057T>C | GRCh37 |
| NC_000002.10:g.73570565T>C | NCBI36 |
| NG_011690.1:g.109178T>C , LRG_741:g.109178T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7590T>C | ENSP00000507671.1:p.Phe2530= | |
| ENST00000682801.1:c.7590T>C | ENSP00000507862.1:p.Phe2530= | |
| ENST00000682859.1:c.7590T>C | ENSP00000508222.1:p.Phe2530= | |
| ENST00000683791.1:c.982T>C | ||
| ENST00000684460.1:c.5042T>C | ||
| ENST00000684548.1:c.7590T>C | ENSP00000507421.1:p.Phe2530= | |
| ENST00000684590.1:c.2037T>C | ENSP00000507376.1:p.Phe679= | |
| ENST00000684656.1:c.5042T>C | ||
| ENST00000613296.6:c.7971T>C MANE Select | ENSP00000482968.1:p.Phe2657= | |
| ENST00000651434.1:c.896-29845T>C | ||
| ENST00000423048.5:c.2802T>C | ENSP00000399833.1:p.Phe934= | |
| ENST00000484298.5:c.7845T>C | ENSP00000478155.1:p.Phe2615= | |
| ENST00000613296.4:c.7971T>C | ENSP00000482968.1:p.Phe2657= | |
| ENST00000614410.4:c.7971T>C | ENSP00000479094.1:p.Phe2657= | |
| ENST00000620466.4:n.1774T>C | ||
| NM_015120.4:c.7974T>C , LRG_741t1:c.7974T>C | NP_055935.4:p.Phe2658= | |
| NM_001378454.1:c.7971T>C MANE Select | NP_001365383.1:p.Phe2657= |