Linked Data
ClinVar Variation Id:
1529991
ClinVar RCV Id:
RCV002089485
dbSNP Id:
rs2148429615
gnomAD v4:
2-15402227-T-G
MyVariant Identifiers:
chr2:g.15542351T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15402227T>G , CM000664.2:g.15402227T>G | GRCh38 |
| NC_000002.11:g.15542351T>G , CM000664.1:g.15542351T>G | GRCh37 |
| NC_000002.10:g.15459802T>G | NCBI36 |
| NG_032964.1:g.164122A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700061.1:c.1109A>C | ||
| ENST00000700062.1:c.1109A>C | ||
| ENST00000700065.1:n.3025A>C | ||
| ENST00000281513.10:c.3012A>C MANE Select | ENSP00000281513.5:p.Arg1004= | |
| ENST00000281513.9:c.3012A>C | ENSP00000281513.5:p.Arg1004= | |
| ENST00000429842.1:c.304A>C | ||
| ENST00000441755.5:c.153A>C | ENSP00000396501.1:p.Arg51= | |
| ENST00000442506.5:c.155A>C | ||
| NM_015909.3:c.3012A>C | NP_056993.2:p.Arg1004= | |
| NR_052013.2:n.3056A>C | ||
| XM_011510357.1:c.2883A>C | XP_011508659.1:p.Arg961= | |
| XM_011510358.1:c.3012A>C | XP_011508660.1:p.Arg1004= | |
| XM_011510359.1:c.2373A>C | XP_011508661.1:p.Arg791= | |
| XM_011510360.1:c.813A>C | XP_011508662.1:p.Arg271= | |
| XM_011510361.1:c.804A>C | XP_011508663.1:p.Arg268= | |
| XM_011510357.2:c.2883A>C | XP_011508659.1:p.Arg961= | |
| XM_011510358.2:c.3012A>C | XP_011508660.1:p.Arg1004= | |
| XM_011510360.2:c.813A>C | XP_011508662.1:p.Arg271= | |
| XM_011510361.2:c.804A>C | XP_011508663.1:p.Arg268= | |
| XM_017004317.1:c.3012A>C | XP_016859806.1:p.Arg1004= | |
| XM_024452961.1:c.2373A>C | XP_024308729.1:p.Arg791= | |
| NM_015909.4:c.3012A>C MANE Select | NP_056993.2:p.Arg1004= | |
| NR_052013.3:n.3042A>C |