Linked Data
ClinVar Variation Id:
1549746
ClinVar RCV Id:
RCV002182915
dbSNP Id:
rs542100614
gnomAD v4:
2-227164771-G-T
MyVariant Identifiers:
chr2:g.228029487G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227164771G>T , CM000664.2:g.227164771G>T | GRCh38 |
| NC_000002.11:g.228029487G>T , CM000664.1:g.228029487G>T | GRCh37 |
| NC_000002.10:g.227737731G>T | NCBI36 |
| NG_011591.1:g.5207G>T , LRG_230:g.5207G>T | |
| NG_011592.1:g.4789C>A , LRG_231:g.4789C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396578.8:c.45G>T MANE Select | ENSP00000379823.3:p.Pro15= | |
| ENST00000396578.7:c.45G>T | ENSP00000379823.3:p.Pro15= | |
| NM_000091.4:c.45G>T , LRG_230t1:c.45G>T | NP_000082.2:p.Pro15= | |
| XM_005246276.2:c.45G>T | XP_005246333.1:p.Pro15= | |
| XM_005246277.2:c.45G>T | XP_005246334.1:p.Pro15= | |
| XM_005246280.2:c.45G>T | XP_005246337.1:p.Pro15= | |
| XM_006712245.2:c.45G>T | XP_006712308.1:p.Pro15= | |
| XM_011510555.1:c.45G>T | XP_011508857.1:p.Pro15= | |
| XR_241280.2:n.183G>T | ||
| XM_005246277.3:c.45G>T | XP_005246334.1:p.Pro15= | |
| XM_005246280.3:c.45G>T | XP_005246337.1:p.Pro15= | |
| XM_006712245.3:c.45G>T | XP_006712308.1:p.Pro15= | |
| XM_017003295.1:c.45G>T | XP_016858784.1:p.Pro15= | |
| XR_001738601.1:n.183G>T | ||
| XR_241280.3:n.183G>T | ||
| NM_000091.5:c.45G>T MANE Select | NP_000082.2:p.Pro15= |