Linked Data
ClinVar Variation Id:
2765154
ClinVar RCV Id:
RCV003578212
gnomAD v4:
2-169154562-G-T
MyVariant Identifiers:
chr2:g.170011072G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169154562G>T , CM000664.2:g.169154562G>T | GRCh38 |
| NC_000002.11:g.170011072G>T , CM000664.1:g.170011072G>T | GRCh37 |
| NC_000002.10:g.169719318G>T | NCBI36 |
| NG_012634.1:g.213051C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.12193C>A MANE Select | ENSP00000496870.1:p.Arg4065= | |
| ENST00000649153.1:c.3093C>A | ||
| ENST00000650252.1:c.1221C>A | ENSP00000496887.1:p.Phe407Leu | |
| ENST00000263816.7:c.12193C>A | ENSP00000263816.3:p.Arg4065= | |
| NM_004525.2:c.12193C>A | NP_004516.2:p.Arg4065= | |
| XM_011511183.1:c.12064C>A | XP_011509485.1:p.Arg4022= | |
| XM_011511184.1:c.9904C>A | XP_011509486.1:p.Arg3302= | |
| NM_004525.3:c.12193C>A MANE Select | NP_004516.2:p.Arg4065= | |
| XM_011511183.3:c.12064C>A | XP_011509485.1:p.Arg4022= | |
| XM_011511184.2:c.9904C>A | XP_011509486.1:p.Arg3302= |