Linked Data
ClinVar Variation Id:
1122850
ClinVar RCV Id:
RCV001453647
dbSNP Id:
rs2106018840
MyVariant Identifiers:
chr2:g.219757897G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893175G>A , CM000664.2:g.218893175G>A | GRCh38 |
| NC_000002.11:g.219757897G>A , CM000664.1:g.219757897G>A | GRCh37 |
| NC_000002.10:g.219466141G>A | NCBI36 |
| NG_012179.1:g.17643G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1158G>A MANE Select | ENSP00000258411.3:p.Gln386= | |
| ENST00000258411.7:c.1158G>A | ENSP00000258411.3:p.Gln386= | |
| NM_025216.2:c.1158G>A | NP_079492.2:p.Gln386= | |
| XM_011511928.1:c.1107G>A | XP_011510230.1:p.Gln369= | |
| XM_011511929.1:c.1062G>A | XP_011510231.1:p.Gln354= | |
| XM_011511930.1:c.778G>A | XP_011510232.1:p.Asp260Asn | |
| XM_011511929.2:c.1062G>A | XP_011510231.1:p.Gln354= | |
| NM_025216.3:c.1158G>A MANE Select | NP_079492.2:p.Gln386= |