Linked Data
ClinVar Variation Id:
1018207
ClinVar RCV Id:
RCV001317474
dbSNP Id:
rs1688194214
gnomAD v4:
2-188991719-T-A
MyVariant Identifiers:
chr2:g.189856445T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188991719T>A , CM000664.2:g.188991719T>A | GRCh38 |
| NC_000002.11:g.189856445T>A , CM000664.1:g.189856445T>A | GRCh37 |
| NC_000002.10:g.189564690T>A | NCBI36 |
| NG_007404.1:g.22347T>A , LRG_3:g.22347T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.948T>A | ENSP00000415346.2:p.Ala316= | |
| ENST00000304636.9:c.948T>A MANE Select | ENSP00000304408.4:p.Ala316= | |
| ENST00000304636.7:c.948T>A | ENSP00000304408.3:p.Ala316= | |
| ENST00000317840.9:c.948T>A | ENSP00000315243.6:p.Ala316= | |
| ENST00000450867.1:c.46T>A | ||
| NM_000090.3:c.948T>A , LRG_3t1:c.948T>A | NP_000081.1:p.Ala316= | |
| NM_000090.4:c.948T>A MANE Select | NP_000081.2:p.Ala316= |