Linked Data
dbSNP Id:
rs377042732
gnomAD v3:
19-54587233-G-A
gnomAD v4:
19-54587233-G-A
MyVariant Identifiers:
chr19:g.54587233G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54587233G>A , CM000681.2:g.54587233G>A | GRCh38 |
| NC_000019.8:g.59790512G>A | NCBI36 |
| NG_034038.1:g.19237G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391738.8:c.1339G>A (LILRA2) MANE Select | ENSP00000375618.3:p.Val447Met | |
| ENST00000251376.7:c.1288G>A (LILRA2) | ENSP00000251376.3:p.Val430Met | |
| ENST00000251377.7:c.1339G>A (LILRA2) | ENSP00000251377.3:p.Val447Met | |
| ENST00000391737.3:c.1252G>A (LILRA2) | ENSP00000375617.1:p.Val418Met | |
| ENST00000391738.7:c.1339G>A (LILRA2) | ENSP00000375618.3:p.Val447Met | |
| ENST00000472992.1:c.330G>A (LILRA2) | ||
| ENST00000618665.4:c.71-7432G>A (LILRA1) | ENSP00000479482.1:n.71-7432G>A | |
| ENST00000629481.1:c.499G>A (LILRA2) | ENSP00000486483.1:p.Val167Met | |
| NM_001130917.2:c.1339G>A (LILRA2) | NP_001124389.2:p.Val447Met | |
| NM_001290270.1:c.1252G>A (LILRA2) | NP_001277199.1:p.Val418Met | |
| NM_001290271.1:c.*74G>A (LILRA2) | NP_001277200.1:n.*74G>A | |
| NM_006866.3:c.1288G>A (LILRA2) | NP_006857.2:p.Val430Met | |
| XM_006722986.1:c.*74G>A (LILRA2) | XP_006723049.1:n.*74G>A | |
| XM_011526385.1:c.1339G>A (LILRA2) | XP_011524687.1:p.Val447Met | |
| XM_011526386.1:c.*74G>A (LILRA2) | XP_011524688.1:n.*74G>A | |
| XM_011526387.1:c.1252G>A (LILRA2) | XP_011524689.1:p.Val418Met | |
| XM_011526389.1:c.*74G>A (LILRA2) | XP_011524691.1:n.*74G>A | |
| XM_017026224.1:c.*74G>A (LILRA2) | XP_016881713.1:n.*74G>A | |
| NM_001130917.3:c.1339G>A (LILRA2) MANE Select | NP_001124389.2:p.Val447Met | |
| NM_001290271.2:c.*74G>A (LILRA2) | NP_001277200.1:n.*74G>A | |
| NM_006866.4:c.1288G>A (LILRA2) | NP_006857.2:p.Val430Met |