Linked Data
ClinVar Variation Id:
1564958
ClinVar RCV Id:
RCV002218073
dbSNP Id:
rs2106427579
MyVariant Identifiers:
chr2:g.241808667A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869250A>G , CM000664.2:g.240869250A>G | GRCh38 |
| NC_000002.11:g.241808667A>G , CM000664.1:g.241808667A>G | GRCh37 |
| NC_000002.10:g.241457340A>G | NCBI36 |
| NG_008005.1:g.5506A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.246A>G MANE Select | ENSP00000302620.3:p.Gly82= | |
| ENST00000307503.3:c.246A>G | ENSP00000302620.3:p.Gly82= | |
| ENST00000472436.1:n.266A>G | ||
| NM_000030.2:c.246A>G | NP_000021.1:p.Gly82= | |
| XR_924060.1:n.405+983T>C | ||
| NM_000030.3:c.246A>G MANE Select | NP_000021.1:p.Gly82= |