Linked Data
ClinVar Variation Id:
2848666
ClinVar RCV Id:
RCV003635236
MyVariant Identifiers:
chr2:g.233399950C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232535240C>T , CM000664.2:g.232535240C>T | GRCh38 |
| NC_000002.11:g.233399950C>T , CM000664.1:g.233399950C>T | GRCh37 |
| NC_000002.10:g.233108194C>T | NCBI36 |
| NG_008028.1:g.14029C>T | |
| NG_012954.1:g.514C>T | |
| NG_012954.2:g.549C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258385.8:c.1482C>T MANE Select | ENSP00000258385.3:p.Tyr494= | |
| ENST00000258385.7:c.1482C>T | ENSP00000258385.3:p.Tyr494= | |
| ENST00000441621.6:c.*664C>T | ENSP00000408819.2:n.*664C>T | |
| ENST00000446616.1:c.*1123C>T | ENSP00000410801.1:n.*1123C>T | |
| ENST00000543200.5:c.1437C>T | ENSP00000438380.1:p.Tyr479= | |
| NM_000751.2:c.1482C>T | NP_000742.1:p.Tyr494= | |
| NM_001256657.1:c.1437C>T | NP_001243586.1:p.Tyr479= | |
| NM_001311195.1:c.900C>T | NP_001298124.1:p.Tyr300= | |
| NM_001311196.1:c.1179C>T | NP_001298125.1:p.Tyr393= | |
| NR_046333.1:c.-4294966069C>T | ||
| NR_046334.1:c.-4294965790C>T | ||
| XM_011510524.1:c.1101C>T | XP_011508826.1:p.Tyr367= | |
| XM_011510524.2:c.1101C>T | XP_011508826.1:p.Tyr367= | |
| NM_000751.3:c.1482C>T MANE Select | NP_000742.1:p.Tyr494= | |
| NM_001311195.2:c.900C>T | NP_001298124.1:p.Tyr300= | |
| NM_001311196.2:c.1179C>T | NP_001298125.1:p.Tyr393= | |
| NM_001256657.2:c.1437C>T | NP_001243586.1:p.Tyr479= |