Linked Data
ClinVar Variation Id:
1570600
ClinVar RCV Id:
RCV002205662
dbSNP Id:
rs748896126
MyVariant Identifiers:
chr2:g.96920710C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96254972C>T , CM000664.2:g.96254972C>T | GRCh38 |
| NC_000002.11:g.96920710C>T , CM000664.1:g.96920710C>T | GRCh37 |
| NC_000002.10:g.96284437C>T | NCBI36 |
| NG_027695.1:g.16042G>A , LRG_528:g.16042G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.270G>A MANE Select | ENSP00000258439.3:p.Val90= | |
| ENST00000258439.7:c.270G>A | ENSP00000258439.2:p.Val90= | |
| ENST00000432959.1:c.270G>A | ENSP00000416660.1:p.Val90= | |
| ENST00000435268.1:c.18G>A | ENSP00000411810.1:p.Val6= | |
| NM_001193304.2:c.270G>A | NP_001180233.1:p.Val90= | |
| NM_017849.3:c.270G>A , LRG_528t1:c.270G>A | NP_060319.1:p.Val90= | |
| XM_017004450.1:c.-649G>A | XP_016859939.1:n.-649G>A | |
| XM_017004452.1:c.18G>A | XP_016859941.1:p.Val6= | |
| NM_001193304.3:c.270G>A | NP_001180233.1:p.Val90= | |
| NM_017849.4:c.270G>A MANE Select | NP_060319.1:p.Val90= |