Linked Data
dbSNP Id:
rs376045171
gnomAD v2:
4-79832666-A-C
gnomAD v3:
4-78911512-A-C
gnomAD v4:
4-78911512-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78911512A>C , CM000666.2:g.78911512A>C | GRCh38 |
| NC_000004.11:g.79832666A>C , CM000666.1:g.79832666A>C | GRCh37 |
| NC_000004.10:g.80051690A>C | NCBI36 |
| NG_047162.1:g.140135A>C | |
| NG_053104.1:g.32927T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502613.3:c.2965A>C (BMP2K) MANE Select | ENSP00000424668.2:p.Met989Leu | |
| ENST00000335016.9:c.2965A>C (BMP2K) | ENSP00000334836.5:p.Met989Leu | |
| ENST00000342820.10:c.*782+3698T>G (PAQR3) | ENSP00000344203.6:n.*782+3698T>G | |
| ENST00000502613.1:c.2042A>C (BMP2K) | ||
| ENST00000511594.5:c.*677T>G (PAQR3) | ENSP00000425080.1:n.*677T>G | |
| ENST00000512760.5:c.*792+3698T>G (PAQR3) | ENSP00000426875.1:n.*792+3698T>G | |
| ENST00000628286.1:c.*1941A>C (BMP2K) | ENSP00000487317.1:n.*1941A>C | |
| NM_198892.1:c.2965A>C (BMP2K) | NP_942595.1:p.Met989Leu | |
| XM_005263117.1:c.2854A>C (BMP2K) | XP_005263174.1:p.Met952Leu | |
| XM_011532101.1:c.2725A>C (BMP2K) | XP_011530403.1:p.Met909Leu | |
| XR_938694.1:n.1118-5351T>G (PAQR3) | ||
| XM_017008381.1:c.2725A>C (BMP2K) | XP_016863870.1:p.Met909Leu | |
| XM_017008382.1:c.2077A>C (BMP2K) | XP_016863871.1:p.Met693Leu | |
| XR_938694.3:n.1098-5351T>G (PAQR3) | ||
| NM_198892.2:c.2965A>C (BMP2K) MANE Select | NP_942595.1:p.Met989Leu |