Linked Data
ClinVar Variation Id:
1569768
ClinVar RCV Id:
RCV002220925
dbSNP Id:
rs1676771800
gnomAD v3:
2-111997429-A-G
gnomAD v4:
2-111997429-A-G
MyVariant Identifiers:
chr2:g.112755006A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111997429A>G , CM000664.2:g.111997429A>G | GRCh38 |
| NC_000002.11:g.112755006A>G , CM000664.1:g.112755006A>G | GRCh37 |
| NC_000002.10:g.112471477A>G | NCBI36 |
| NG_011607.1:g.103816A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.1557A>G MANE Select | ENSP00000295408.4:p.Leu519= | |
| ENST00000295408.8:c.1557A>G | ENSP00000295408.4:p.Leu519= | |
| ENST00000409780.5:c.1029A>G | ENSP00000387277.1:p.Leu343= | |
| ENST00000421804.6:c.1557A>G | ENSP00000389152.2:p.Leu519= | |
| ENST00000439966.5:c.*1030A>G | ENSP00000402129.1:n.*1030A>G | |
| ENST00000473065.1:n.60A>G | ||
| ENST00000616902.4:c.522A>G | ENSP00000482824.1:p.Leu174= | |
| NM_006343.2:c.1557A>G | NP_006334.2:p.Leu519= | |
| XM_005263565.3:c.1557A>G | XP_005263622.1:p.Leu519= | |
| XM_005263568.3:c.1557A>G | XP_005263625.1:p.Leu519= | |
| XM_011510490.1:c.1368A>G | XP_011508792.1:p.Leu456= | |
| XM_011510491.1:c.342A>G | XP_011508793.1:p.Leu114= | |
| XM_005263565.4:c.1557A>G | XP_005263622.1:p.Leu519= | |
| XM_005263568.4:c.1557A>G | XP_005263625.1:p.Leu519= | |
| XM_011510490.3:c.1368A>G | XP_011508792.1:p.Leu456= | |
| XM_017003164.1:c.1368A>G | XP_016858653.1:p.Leu456= | |
| XM_017003165.2:c.342A>G | XP_016858654.1:p.Leu114= | |
| NM_006343.3:c.1557A>G MANE Select | NP_006334.2:p.Leu519= |