Linked Data
dbSNP Id:
rs755505436
ExAC:
4:79832872 T / A
gnomAD v2:
4-79832872-T-A
gnomAD v4:
4-78911718-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78911718T>A , CM000666.2:g.78911718T>A | GRCh38 |
| NC_000004.11:g.79832872T>A , CM000666.1:g.79832872T>A | GRCh37 |
| NC_000004.10:g.80051896T>A | NCBI36 |
| NG_047162.1:g.140341T>A | |
| NG_053104.1:g.32721A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502613.3:c.3171T>A (BMP2K) MANE Select | ENSP00000424668.2:p.Asn1057Lys | |
| ENST00000335016.9:c.3171T>A (BMP2K) | ENSP00000334836.5:p.Asn1057Lys | |
| ENST00000342820.10:c.*782+3492A>T (PAQR3) | ENSP00000344203.6:n.*782+3492A>T | |
| ENST00000502613.1:c.2248T>A (BMP2K) | ||
| ENST00000511594.5:c.*471A>T (PAQR3) | ENSP00000425080.1:n.*471A>T | |
| ENST00000512760.5:c.*792+3492A>T (PAQR3) | ENSP00000426875.1:n.*792+3492A>T | |
| ENST00000628286.1:c.*2147T>A (BMP2K) | ENSP00000487317.1:n.*2147T>A | |
| NM_198892.1:c.3171T>A (BMP2K) | NP_942595.1:p.Asn1057Lys | |
| XM_005263117.1:c.3060T>A (BMP2K) | XP_005263174.1:p.Asn1020Lys | |
| XM_011532101.1:c.2931T>A (BMP2K) | XP_011530403.1:p.Asn977Lys | |
| XR_938694.1:n.1118-5557A>T (PAQR3) | ||
| XM_017008381.1:c.2931T>A (BMP2K) | XP_016863870.1:p.Asn977Lys | |
| XM_017008382.1:c.2283T>A (BMP2K) | XP_016863871.1:p.Asn761Lys | |
| XR_938694.3:n.1098-5557A>T (PAQR3) | ||
| NM_198892.2:c.3171T>A (BMP2K) MANE Select | NP_942595.1:p.Asn1057Lys |