Linked Data
dbSNP Id:
rs761572078
ExAC:
4:79832952 C / A
gnomAD v2:
4-79832952-C-A
gnomAD v4:
4-78911798-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78911798C>A , CM000666.2:g.78911798C>A | GRCh38 |
| NC_000004.11:g.79832952C>A , CM000666.1:g.79832952C>A | GRCh37 |
| NC_000004.10:g.80051976C>A | NCBI36 |
| NG_047162.1:g.140421C>A | |
| NG_053104.1:g.32641G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502613.3:c.3251C>A (BMP2K) MANE Select | ENSP00000424668.2:p.Pro1084Gln | |
| ENST00000335016.9:c.3251C>A (BMP2K) | ENSP00000334836.5:p.Pro1084Gln | |
| ENST00000342820.10:c.*782+3412G>T (PAQR3) | ENSP00000344203.6:n.*782+3412G>T | |
| ENST00000502613.1:c.2328C>A (BMP2K) | ||
| ENST00000511594.5:c.*391G>T (PAQR3) | ENSP00000425080.1:n.*391G>T | |
| ENST00000512760.5:c.*792+3412G>T (PAQR3) | ENSP00000426875.1:n.*792+3412G>T | |
| ENST00000628286.1:c.*2227C>A (BMP2K) | ENSP00000487317.1:n.*2227C>A | |
| NM_198892.1:c.3251C>A (BMP2K) | NP_942595.1:p.Pro1084Gln | |
| XM_005263117.1:c.3140C>A (BMP2K) | XP_005263174.1:p.Pro1047Gln | |
| XM_011532101.1:c.3011C>A (BMP2K) | XP_011530403.1:p.Pro1004Gln | |
| XR_938694.1:n.1118-5637G>T (PAQR3) | ||
| XM_017008381.1:c.3011C>A (BMP2K) | XP_016863870.1:p.Pro1004Gln | |
| XM_017008382.1:c.2363C>A (BMP2K) | XP_016863871.1:p.Pro788Gln | |
| XR_938694.3:n.1098-5637G>T (PAQR3) | ||
| NM_198892.2:c.3251C>A (BMP2K) MANE Select | NP_942595.1:p.Pro1084Gln |