Linked Data
ClinVar Variation Id:
2943828
ClinVar RCV Id:
RCV003803386
MyVariant Identifiers:
chr2:g.32476342G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32251273G>A , CM000664.2:g.32251273G>A | GRCh38 |
| NC_000002.11:g.32476342G>A , CM000664.1:g.32476342G>A | GRCh37 |
| NC_000002.10:g.32329846G>A | NCBI36 |
| NG_041780.1:g.19471C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652197.2:c.-76+5502C>T | ENSP00000498301.2:n.-76+5502C>T | |
| ENST00000402280.6:c.591C>T MANE Select | ENSP00000385428.1:p.Phe197= | |
| ENST00000404025.3:c.591C>T | ENSP00000385090.3:p.Phe197= | |
| ENST00000652197.1:c.591C>T | ENSP00000498301.1:p.Phe197= | |
| ENST00000342905.10:c.262+1146C>T | ENSP00000339666.6:n.262+1146C>T | |
| ENST00000360906.9:c.591C>T | ENSP00000354159.5:p.Phe197= | |
| ENST00000402280.5:c.591C>T | ENSP00000385428.1:p.Phe197= | |
| ENST00000404025.2:c.591C>T | ENSP00000385090.2:p.Phe197= | |
| NM_001199138.1:c.591C>T | NP_001186067.1:p.Phe197= | |
| NM_001199139.1:c.591C>T | NP_001186068.1:p.Phe197= | |
| NM_001302504.1:c.262+1146C>T | NP_001289433.1:n.262+1146C>T | |
| NM_021209.4:c.591C>T | NP_067032.3:p.Phe197= | |
| XM_011533008.1:c.591C>T | XP_011531310.1:p.Phe197= | |
| XM_017004619.1:c.591C>T | XP_016860108.1:p.Phe197= | |
| XR_001738872.1:n.852C>T | ||
| NM_001199138.2:c.591C>T MANE Select | NP_001186067.1:p.Phe197= |