Linked Data
ClinVar Variation Id:
2694814
ClinVar RCV Id:
RCV003536059
dbSNP Id:
rs1243885269
MyVariant Identifiers:
chr2:g.61259196T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61032061T>A , CM000664.2:g.61032061T>A | GRCh38 |
| NC_000002.11:g.61259196T>A , CM000664.1:g.61259196T>A | GRCh37 |
| NC_000002.10:g.61112700T>A | NCBI36 |
| NG_008665.1:g.19385T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295030.6:c.735T>A MANE Select | ENSP00000295030.4:p.Gly245= | |
| ENST00000295030.5:c.735T>A | ENSP00000295030.4:p.Gly245= | |
| NM_002618.3:c.735T>A | NP_002609.1:p.Gly245= | |
| XM_011532904.1:c.618T>A | XP_011531206.1:p.Gly206= | |
| NM_002618.4:c.735T>A MANE Select | NP_002609.1:p.Gly245= |