Linked Data
ClinVar Variation Id:
372209
dbSNP Id:
rs767006508
ExAC:
2:74759841 G / A
gnomAD v2:
2-74759841-G-A
gnomAD v3:
2-74532714-G-A
gnomAD v4:
2-74532714-G-A
COSMIC:
COSM4979359
PubMed:
PMID:27208207
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74532714G>A , CM000664.2:g.74532714G>A | GRCh38 |
| NC_000002.11:g.74759841G>A , CM000664.1:g.74759841G>A | GRCh37 |
| NC_000002.10:g.74613349G>A | NCBI36 |
| NG_012163.1:g.8310G>A | |
| NG_033037.1:g.2134C>T | |
| NG_033047.1:g.26222C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000437202.2:c.1146-106G>A (HTRA2) | ENSP00000399166.2:n.1146-106G>A | |
| ENST00000462909.6:n.961G>A (HTRA2) | ||
| ENST00000465521.2:n.1021-106G>A (HTRA2) | ||
| ENST00000467961.6:n.945G>A (HTRA2) | ||
| ENST00000484881.6:n.836G>A (HTRA2) | ||
| ENST00000696725.1:n.1094G>A (HTRA2) | ||
| ENST00000696726.1:n.744-106G>A (HTRA2) | ||
| ENST00000696727.1:c.1116-106G>A (HTRA2) | ENSP00000512836.1:n.1116-106G>A | |
| ENST00000696728.1:c.*118G>A (HTRA2) | ENSP00000512837.1:n.*118G>A | |
| ENST00000696729.1:n.1274G>A (HTRA2) | ||
| ENST00000696731.1:n.1283G>A (HTRA2) | ||
| ENST00000258080.8:c.1211G>A (HTRA2) MANE Select | ENSP00000258080.3:p.Arg404Gln | |
| ENST00000264094.8:c.*892C>T (LOXL3) MANE Select | ENSP00000264094.3:n.*892C>T | |
| ENST00000258080.7:c.1211G>A (HTRA2) | ENSP00000258080.3:p.Arg404Gln | |
| ENST00000264094.7:c.*892C>T (LOXL3) | ENSP00000264094.3:n.*892C>T | |
| ENST00000352222.7:c.921-106G>A (HTRA2) | ENSP00000312893.3:n.921-106G>A | |
| ENST00000409249.5:c.*892C>T (LOXL3) | ENSP00000387103.1:n.*892C>T | |
| ENST00000437202.1:c.1107-106G>A (HTRA2) | ENSP00000399166.1:n.1107-106G>A | |
| ENST00000462909.5:n.961G>A (HTRA2) | ||
| ENST00000467961.5:n.895G>A (HTRA2) | ||
| ENST00000470907.6:n.2537C>T (LOXL3) | ||
| ENST00000484352.5:n.1274G>A (HTRA2) | ||
| NM_001289164.1:c.*892C>T (LOXL3) | NP_001276093.1:n.*892C>T | |
| NM_001289165.1:c.*892C>T (LOXL3) | NP_001276094.1:n.*892C>T | |
| NM_013247.4:c.1211G>A (HTRA2) | NP_037379.1:p.Arg404Gln | |
| NM_032603.3:c.*892C>T (LOXL3) | NP_115992.1:n.*892C>T | |
| NM_145074.2:c.921-106G>A (HTRA2) | NP_659540.1:n.921-106G>A | |
| XM_005264266.2:c.1116-106G>A (HTRA2) | XP_005264323.1:n.1116-106G>A | |
| NM_001289164.2:c.*892C>T (LOXL3) | NP_001276093.1:n.*892C>T | |
| NM_001321727.1:c.1146-106G>A (HTRA2) | NP_001308656.1:n.1146-106G>A | |
| NM_001321728.1:c.1116-106G>A (HTRA2) | NP_001308657.1:n.1116-106G>A | |
| NM_032603.4:c.*892C>T (LOXL3) | NP_115992.1:n.*892C>T | |
| NR_135769.1:n.1853G>A (HTRA2) | ||
| NR_135770.1:n.1281G>A (HTRA2) | ||
| NR_135771.1:n.1265G>A (HTRA2) | ||
| NR_135772.1:n.1285G>A (HTRA2) | ||
| NM_032603.5:c.*892C>T (LOXL3) MANE Select | NP_115992.1:n.*892C>T | |
| NM_001289164.3:c.*892C>T (LOXL3) | NP_001276093.1:n.*892C>T | |
| NM_001289165.2:c.*892C>T (LOXL3) | NP_001276094.1:n.*892C>T | |
| NM_013247.5:c.1211G>A (HTRA2) MANE Select | NP_037379.1:p.Arg404Gln |