Linked Data
dbSNP Id:
rs755415568
gnomAD v4:
2-15218899-C-A
MyVariant Identifiers:
chr2:g.15359023C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15218899C>A , CM000664.2:g.15218899C>A | GRCh38 |
| NC_000002.11:g.15359023C>A , CM000664.1:g.15359023C>A | GRCh37 |
| NC_000002.10:g.15276474C>A | NCBI36 |
| NG_032964.1:g.347450G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700061.1:c.4292G>T | ||
| ENST00000700062.1:c.4426+13523G>T | ||
| ENST00000700063.1:c.817G>T | ||
| ENST00000700064.1:c.2162G>T | ||
| ENST00000281513.10:c.6306G>T MANE Select | ENSP00000281513.5:p.Pro2102= | |
| ENST00000281513.9:c.6306G>T | ENSP00000281513.5:p.Pro2102= | |
| ENST00000417461.5:c.512+13523G>T | ENSP00000392421.1:n.512+13523G>T | |
| ENST00000442506.5:c.3449G>T | ||
| NM_015909.3:c.6306G>T | NP_056993.2:p.Pro2102= | |
| NR_052013.2:n.6280+13523G>T | ||
| XM_011510357.1:c.6177G>T | XP_011508659.1:p.Pro2059= | |
| XM_011510358.1:c.6306G>T | XP_011508660.1:p.Pro2102= | |
| XM_011510359.1:c.5667G>T | XP_011508661.1:p.Pro1889= | |
| XM_011510360.1:c.4107G>T | XP_011508662.1:p.Pro1369= | |
| XM_011510361.1:c.4098G>T | XP_011508663.1:p.Pro1366= | |
| XM_011510357.2:c.6177G>T | XP_011508659.1:p.Pro2059= | |
| XM_011510358.2:c.6306G>T | XP_011508660.1:p.Pro2102= | |
| XM_011510360.2:c.4107G>T | XP_011508662.1:p.Pro1369= | |
| XM_011510361.2:c.4098G>T | XP_011508663.1:p.Pro1366= | |
| XM_017004317.1:c.6306G>T | XP_016859806.1:p.Pro2102= | |
| XM_024452961.1:c.5667G>T | XP_024308729.1:p.Pro1889= | |
| NM_015909.4:c.6306G>T MANE Select | NP_056993.2:p.Pro2102= | |
| NR_052013.3:n.6266+13523G>T |