Linked Data
ClinVar Variation Id:
2762459
ClinVar RCV Id:
RCV003524801
dbSNP Id:
rs1576472577
gnomAD v3:
2-189007535-A-G
gnomAD v4:
2-189007535-A-G
MyVariant Identifiers:
chr2:g.189872261A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189007535A>G , CM000664.2:g.189007535A>G | GRCh38 |
| NC_000002.11:g.189872261A>G , CM000664.1:g.189872261A>G | GRCh37 |
| NC_000002.10:g.189580506A>G | NCBI36 |
| NG_007404.1:g.38163A>G , LRG_3:g.38163A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3192A>G | ENSP00000415346.2:p.Thr1064= | |
| ENST00000304636.9:c.3291A>G MANE Select | ENSP00000304408.4:p.Thr1097= | |
| ENST00000304636.7:c.3291A>G | ENSP00000304408.3:p.Thr1097= | |
| ENST00000317840.9:c.2528-519A>G | ENSP00000315243.6:n.2528-519A>G | |
| NM_000090.3:c.3291A>G , LRG_3t1:c.3291A>G | NP_000081.1:p.Thr1097= | |
| NM_000090.4:c.3291A>G MANE Select | NP_000081.2:p.Thr1097= |