Linked Data
ClinVar Variation Id:
2276000
ClinVar RCV Id:
RCV004126697
dbSNP Id:
rs1734585982
gnomAD v4:
4-78911338-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78911338G>A , CM000666.2:g.78911338G>A | GRCh38 |
| NC_000004.11:g.79832492G>A , CM000666.1:g.79832492G>A | GRCh37 |
| NC_000004.10:g.80051516G>A | NCBI36 |
| NG_047162.1:g.139961G>A | |
| NG_053104.1:g.33101C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502613.3:c.2791G>A (BMP2K) MANE Select | ENSP00000424668.2:p.Val931Ile | |
| ENST00000335016.9:c.2791G>A (BMP2K) | ENSP00000334836.5:p.Val931Ile | |
| ENST00000342820.10:c.*782+3872C>T (PAQR3) | ENSP00000344203.6:n.*782+3872C>T | |
| ENST00000502613.1:c.1868G>A (BMP2K) | ||
| ENST00000511594.5:c.*851C>T (PAQR3) | ENSP00000425080.1:n.*851C>T | |
| ENST00000512760.5:c.*792+3872C>T (PAQR3) | ENSP00000426875.1:n.*792+3872C>T | |
| ENST00000628286.1:c.*1767G>A (BMP2K) | ENSP00000487317.1:n.*1767G>A | |
| NM_198892.1:c.2791G>A (BMP2K) | NP_942595.1:p.Val931Ile | |
| XM_005263117.1:c.2680G>A (BMP2K) | XP_005263174.1:p.Val894Ile | |
| XM_011532101.1:c.2551G>A (BMP2K) | XP_011530403.1:p.Val851Ile | |
| XR_938694.1:n.1118-5177C>T (PAQR3) | ||
| XM_017008381.1:c.2551G>A (BMP2K) | XP_016863870.1:p.Val851Ile | |
| XM_017008382.1:c.1903G>A (BMP2K) | XP_016863871.1:p.Val635Ile | |
| XR_938694.3:n.1098-5177C>T (PAQR3) | ||
| NM_198892.2:c.2791G>A (BMP2K) MANE Select | NP_942595.1:p.Val931Ile |