Linked Data
dbSNP Id:
rs111548741
ExAC:
4:79832976 G / A
gnomAD v2:
4-79832976-G-A
gnomAD v3:
4-78911822-G-A
gnomAD v4:
4-78911822-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78911822G>A , CM000666.2:g.78911822G>A | GRCh38 |
| NC_000004.11:g.79832976G>A , CM000666.1:g.79832976G>A | GRCh37 |
| NC_000004.10:g.80052000G>A | NCBI36 |
| NG_047162.1:g.140445G>A | |
| NG_053104.1:g.32617C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502613.3:c.3275G>A (BMP2K) MANE Select | ENSP00000424668.2:p.Arg1092His | |
| ENST00000335016.9:c.3275G>A (BMP2K) | ENSP00000334836.5:p.Arg1092His | |
| ENST00000342820.10:c.*782+3388C>T (PAQR3) | ENSP00000344203.6:n.*782+3388C>T | |
| ENST00000502613.1:c.2352G>A (BMP2K) | ||
| ENST00000511594.5:c.*367C>T (PAQR3) | ENSP00000425080.1:n.*367C>T | |
| ENST00000512760.5:c.*792+3388C>T (PAQR3) | ENSP00000426875.1:n.*792+3388C>T | |
| ENST00000628286.1:c.*2251G>A (BMP2K) | ENSP00000487317.1:n.*2251G>A | |
| NM_198892.1:c.3275G>A (BMP2K) | NP_942595.1:p.Arg1092His | |
| XM_005263117.1:c.3164G>A (BMP2K) | XP_005263174.1:p.Arg1055His | |
| XM_011532101.1:c.3035G>A (BMP2K) | XP_011530403.1:p.Arg1012His | |
| XR_938694.1:n.1118-5661C>T (PAQR3) | ||
| XM_017008381.1:c.3035G>A (BMP2K) | XP_016863870.1:p.Arg1012His | |
| XM_017008382.1:c.2387G>A (BMP2K) | XP_016863871.1:p.Arg796His | |
| XR_938694.3:n.1098-5661C>T (PAQR3) | ||
| NM_198892.2:c.3275G>A (BMP2K) MANE Select | NP_942595.1:p.Arg1092His |