Linked Data
ClinVar Variation Id:
2863152
ClinVar RCV Id:
RCV003700164
MyVariant Identifiers:
chr2:g.15359014G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15218890G>C , CM000664.2:g.15218890G>C | GRCh38 |
| NC_000002.11:g.15359014G>C , CM000664.1:g.15359014G>C | GRCh37 |
| NC_000002.10:g.15276465G>C | NCBI36 |
| NG_032964.1:g.347459C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700061.1:c.4301C>G | ||
| ENST00000700062.1:c.4426+13532C>G | ||
| ENST00000700063.1:c.826C>G | ||
| ENST00000700064.1:c.2171C>G | ||
| ENST00000281513.10:c.6315C>G MANE Select | ENSP00000281513.5:p.Pro2105= | |
| ENST00000281513.9:c.6315C>G | ENSP00000281513.5:p.Pro2105= | |
| ENST00000417461.5:c.512+13532C>G | ENSP00000392421.1:n.512+13532C>G | |
| ENST00000442506.5:c.3458C>G | ||
| NM_015909.3:c.6315C>G | NP_056993.2:p.Pro2105= | |
| NR_052013.2:n.6280+13532C>G | ||
| XM_011510357.1:c.6186C>G | XP_011508659.1:p.Pro2062= | |
| XM_011510358.1:c.6315C>G | XP_011508660.1:p.Pro2105= | |
| XM_011510359.1:c.5676C>G | XP_011508661.1:p.Pro1892= | |
| XM_011510360.1:c.4116C>G | XP_011508662.1:p.Pro1372= | |
| XM_011510361.1:c.4107C>G | XP_011508663.1:p.Pro1369= | |
| XM_011510357.2:c.6186C>G | XP_011508659.1:p.Pro2062= | |
| XM_011510358.2:c.6315C>G | XP_011508660.1:p.Pro2105= | |
| XM_011510360.2:c.4116C>G | XP_011508662.1:p.Pro1372= | |
| XM_011510361.2:c.4107C>G | XP_011508663.1:p.Pro1369= | |
| XM_017004317.1:c.6315C>G | XP_016859806.1:p.Pro2105= | |
| XM_024452961.1:c.5676C>G | XP_024308729.1:p.Pro1892= | |
| NM_015909.4:c.6315C>G MANE Select | NP_056993.2:p.Pro2105= | |
| NR_052013.3:n.6266+13532C>G |