Linked Data
ClinVar Variation Id:
1123037
ClinVar RCV Id:
RCV001453935
dbSNP Id:
rs2104196274
MyVariant Identifiers:
chr2:g.73828497C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601370C>T , CM000664.2:g.73601370C>T | GRCh38 |
| NC_000002.11:g.73828497C>T , CM000664.1:g.73828497C>T | GRCh37 |
| NC_000002.10:g.73682005C>T | NCBI36 |
| NG_011690.1:g.220618C>T , LRG_741:g.220618C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11667C>T | ENSP00000507671.1:p.Tyr3889= | |
| ENST00000682801.1:c.11167-815C>T | ENSP00000507862.1:n.11167-815C>T | |
| ENST00000682859.1:c.11667C>T | ENSP00000508222.1:p.Tyr3889= | |
| ENST00000683791.1:c.4753C>T | ||
| ENST00000684460.1:c.8948C>T | ||
| ENST00000684548.1:c.11667C>T | ENSP00000507421.1:p.Tyr3889= | |
| ENST00000684590.1:c.6114C>T | ENSP00000507376.1:p.Tyr2038= | |
| ENST00000684656.1:c.9132C>T | ||
| ENST00000613296.6:c.12048C>T MANE Select | ENSP00000482968.1:p.Tyr4016= | |
| ENST00000651057.1:c.2202C>T | ENSP00000498504.1:p.Tyr734= | |
| ENST00000651434.1:c.3404C>T | ||
| ENST00000651750.1:c.1260+489C>T | ||
| ENST00000652487.1:c.3219C>T | ||
| ENST00000464408.3:n.223C>T | ||
| ENST00000484298.5:c.11922C>T | ENSP00000478155.1:p.Tyr3974= | |
| ENST00000613296.4:c.12048C>T | ENSP00000482968.1:p.Tyr4016= | |
| ENST00000620466.4:n.5851C>T | ||
| NM_015120.4:c.12051C>T , LRG_741t1:c.12051C>T | NP_055935.4:p.Tyr4017= | |
| NM_001378454.1:c.12048C>T MANE Select | NP_001365383.1:p.Tyr4016= |