Linked Data
dbSNP Id:
rs745760469
ExAC:
4:79832919 C / T
gnomAD v2:
4-79832919-C-T
gnomAD v4:
4-78911765-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78911765C>T , CM000666.2:g.78911765C>T | GRCh38 |
| NC_000004.11:g.79832919C>T , CM000666.1:g.79832919C>T | GRCh37 |
| NC_000004.10:g.80051943C>T | NCBI36 |
| NG_047162.1:g.140388C>T | |
| NG_053104.1:g.32674G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502613.3:c.3218C>T (BMP2K) MANE Select | ENSP00000424668.2:p.Pro1073Leu | |
| ENST00000335016.9:c.3218C>T (BMP2K) | ENSP00000334836.5:p.Pro1073Leu | |
| ENST00000342820.10:c.*782+3445G>A (PAQR3) | ENSP00000344203.6:n.*782+3445G>A | |
| ENST00000502613.1:c.2295C>T (BMP2K) | ||
| ENST00000511594.5:c.*424G>A (PAQR3) | ENSP00000425080.1:n.*424G>A | |
| ENST00000512760.5:c.*792+3445G>A (PAQR3) | ENSP00000426875.1:n.*792+3445G>A | |
| ENST00000628286.1:c.*2194C>T (BMP2K) | ENSP00000487317.1:n.*2194C>T | |
| NM_198892.1:c.3218C>T (BMP2K) | NP_942595.1:p.Pro1073Leu | |
| XM_005263117.1:c.3107C>T (BMP2K) | XP_005263174.1:p.Pro1036Leu | |
| XM_011532101.1:c.2978C>T (BMP2K) | XP_011530403.1:p.Pro993Leu | |
| XR_938694.1:n.1118-5604G>A (PAQR3) | ||
| XM_017008381.1:c.2978C>T (BMP2K) | XP_016863870.1:p.Pro993Leu | |
| XM_017008382.1:c.2330C>T (BMP2K) | XP_016863871.1:p.Pro777Leu | |
| XR_938694.3:n.1098-5604G>A (PAQR3) | ||
| NM_198892.2:c.3218C>T (BMP2K) MANE Select | NP_942595.1:p.Pro1073Leu |