Linked Data
dbSNP Id:
rs1011274561
gnomAD v2:
4-79832838-G-T
gnomAD v3:
4-78911684-G-T
gnomAD v4:
4-78911684-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78911684G>T , CM000666.2:g.78911684G>T | GRCh38 |
| NC_000004.11:g.79832838G>T , CM000666.1:g.79832838G>T | GRCh37 |
| NC_000004.10:g.80051862G>T | NCBI36 |
| NG_047162.1:g.140307G>T | |
| NG_053104.1:g.32755C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502613.3:c.3137G>T (BMP2K) MANE Select | ENSP00000424668.2:p.Ser1046Ile | |
| ENST00000335016.9:c.3137G>T (BMP2K) | ENSP00000334836.5:p.Ser1046Ile | |
| ENST00000342820.10:c.*782+3526C>A (PAQR3) | ENSP00000344203.6:n.*782+3526C>A | |
| ENST00000502613.1:c.2214G>T (BMP2K) | ||
| ENST00000511594.5:c.*505C>A (PAQR3) | ENSP00000425080.1:n.*505C>A | |
| ENST00000512760.5:c.*792+3526C>A (PAQR3) | ENSP00000426875.1:n.*792+3526C>A | |
| ENST00000628286.1:c.*2113G>T (BMP2K) | ENSP00000487317.1:n.*2113G>T | |
| NM_198892.1:c.3137G>T (BMP2K) | NP_942595.1:p.Ser1046Ile | |
| XM_005263117.1:c.3026G>T (BMP2K) | XP_005263174.1:p.Ser1009Ile | |
| XM_011532101.1:c.2897G>T (BMP2K) | XP_011530403.1:p.Ser966Ile | |
| XR_938694.1:n.1118-5523C>A (PAQR3) | ||
| XM_017008381.1:c.2897G>T (BMP2K) | XP_016863870.1:p.Ser966Ile | |
| XM_017008382.1:c.2249G>T (BMP2K) | XP_016863871.1:p.Ser750Ile | |
| XR_938694.3:n.1098-5523C>A (PAQR3) | ||
| NM_198892.2:c.3137G>T (BMP2K) MANE Select | NP_942595.1:p.Ser1046Ile |