Linked Data
ClinVar Variation Id:
2755206
ClinVar RCV Id:
RCV003564238
MyVariant Identifiers:
chr2:g.170011055T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169154545T>C , CM000664.2:g.169154545T>C | GRCh38 |
| NC_000002.11:g.170011055T>C , CM000664.1:g.170011055T>C | GRCh37 |
| NC_000002.10:g.169719301T>C | NCBI36 |
| NG_012634.1:g.213068A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.12210A>G MANE Select | ENSP00000496870.1:p.Ser4070= | |
| ENST00000649153.1:c.3110A>G | ||
| ENST00000650252.1:c.1238A>G | ENSP00000496887.1:p.His413Arg | |
| ENST00000263816.7:c.12210A>G | ENSP00000263816.3:p.Ser4070= | |
| NM_004525.2:c.12210A>G | NP_004516.2:p.Ser4070= | |
| XM_011511183.1:c.12081A>G | XP_011509485.1:p.Ser4027= | |
| XM_011511184.1:c.9921A>G | XP_011509486.1:p.Ser3307= | |
| NM_004525.3:c.12210A>G MANE Select | NP_004516.2:p.Ser4070= | |
| XM_011511183.3:c.12081A>G | XP_011509485.1:p.Ser4027= | |
| XM_011511184.2:c.9921A>G | XP_011509486.1:p.Ser3307= |