Linked Data
dbSNP Id:
rs1240815833
gnomAD v2:
2-71059097-C-A
gnomAD v3:
2-70831966-C-A
gnomAD v4:
2-70831966-C-A
MyVariant Identifiers:
chr2:g.70831966C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70831966C>A , CM000664.2:g.70831966C>A | GRCh38 |
| NC_000002.11:g.71059097C>A , CM000664.1:g.71059097C>A | GRCh37 |
| NC_000002.10:g.70912605C>A | NCBI36 |
| NG_033914.1:g.8858G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410009.5:c.718-147G>T MANE Select | ENSP00000386378.3:n.718-147G>T | |
| ENST00000410009.4:c.718-147G>T | ENSP00000386378.3:n.718-147G>T | |
| NM_015717.4:c.718-147G>T | NP_056532.4:n.718-147G>T | |
| XM_011532874.1:c.718-147G>T | XP_011531176.1:n.718-147G>T | |
| XM_011532875.1:c.718-147G>T | XP_011531177.1:n.718-147G>T | |
| XM_011532876.1:c.718-147G>T | XP_011531178.1:n.718-147G>T | |
| XM_011532875.2:c.718-147G>T | XP_011531177.1:n.718-147G>T | |
| XM_011532876.2:c.718-147G>T | XP_011531178.1:n.718-147G>T | |
| NM_015717.5:c.718-147G>T MANE Select | NP_056532.4:n.718-147G>T |