Linked Data
dbSNP Id:
rs73939008
gnomAD v3:
19-54587275-G-T
gnomAD v4:
19-54587275-G-T
MyVariant Identifiers:
chr19:g.54587275G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54587275G>T , CM000681.2:g.54587275G>T | GRCh38 |
| NC_000019.8:g.59790554G>T | NCBI36 |
| NG_034038.1:g.19279G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391738.8:c.1381G>T (LILRA2) MANE Select | ENSP00000375618.3:p.Val461Leu | |
| ENST00000251376.7:c.1330G>T (LILRA2) | ENSP00000251376.3:p.Val444Leu | |
| ENST00000251377.7:c.1381G>T (LILRA2) | ENSP00000251377.3:p.Val461Leu | |
| ENST00000391737.3:c.1294G>T (LILRA2) | ENSP00000375617.1:p.Val432Leu | |
| ENST00000391738.7:c.1381G>T (LILRA2) | ENSP00000375618.3:p.Val461Leu | |
| ENST00000472992.1:c.372G>T (LILRA2) | ||
| ENST00000618665.4:c.71-7390G>T (LILRA1) | ENSP00000479482.1:n.71-7390G>T | |
| ENST00000629481.1:c.541G>T (LILRA2) | ENSP00000486483.1:p.Val181Leu | |
| NM_001130917.2:c.1381G>T (LILRA2) | NP_001124389.2:p.Val461Leu | |
| NM_001290270.1:c.1294G>T (LILRA2) | NP_001277199.1:p.Val432Leu | |
| NM_001290271.1:c.*116G>T (LILRA2) | NP_001277200.1:n.*116G>T | |
| NM_006866.3:c.1330G>T (LILRA2) | NP_006857.2:p.Val444Leu | |
| XM_006722986.1:c.*116G>T (LILRA2) | XP_006723049.1:n.*116G>T | |
| XM_011526385.1:c.1381G>T (LILRA2) | XP_011524687.1:p.Val461Leu | |
| XM_011526386.1:c.*116G>T (LILRA2) | XP_011524688.1:n.*116G>T | |
| XM_011526387.1:c.1294G>T (LILRA2) | XP_011524689.1:p.Val432Leu | |
| XM_011526389.1:c.*116G>T (LILRA2) | XP_011524691.1:n.*116G>T | |
| XM_017026224.1:c.*116G>T (LILRA2) | XP_016881713.1:n.*116G>T | |
| NM_001130917.3:c.1381G>T (LILRA2) MANE Select | NP_001124389.2:p.Val461Leu | |
| NM_001290271.2:c.*116G>T (LILRA2) | NP_001277200.1:n.*116G>T | |
| NM_006866.4:c.1330G>T (LILRA2) | NP_006857.2:p.Val444Leu |