Linked Data
dbSNP Id:
rs10849373
gnomAD v2:
12-740961-G-A
gnomAD v3:
12-631795-G-A
gnomAD v4:
12-631795-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.631795G>A , CM000674.2:g.631795G>A | GRCh38 |
| NC_000012.11:g.740961G>A , CM000674.1:g.740961G>A | GRCh37 |
| NC_000012.10:g.611222G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305108.10:c.33+31533C>T (NINJ2) MANE Select | ENSP00000307552.5:n.33+31533C>T | |
| ENST00000305108.9:c.33+31533C>T (NINJ2) | ENSP00000307552.5:n.33+31533C>T | |
| ENST00000662884.1:c.171+31533C>T (NINJ2) | ENSP00000499548.1:n.171+31533C>T | |
| ENST00000305108.8:c.171+31533C>T (NINJ2) | ENSP00000307552.4:n.171+31533C>T | |
| ENST00000433832.2:c.-76+11716C>T (NINJ2) | ENSP00000415158.2:n.-76+11716C>T | |
| ENST00000537416.1:n.175+11716C>T (NINJ2) | ||
| ENST00000542920.1:c.-76+11716C>T (NINJ2) | ENSP00000438831.1:n.-76+11716C>T | |
| NM_001294346.1:c.-76+11716C>T (NINJ2) | NP_001281275.1:n.-76+11716C>T | |
| NM_016533.5:c.171+31533C>T (NINJ2) | NP_057617.2:n.171+31533C>T | |
| NR_122124.1:n.96-419G>A (NINJ2-AS1) | ||
| NM_001294346.2:c.-76+11716C>T (NINJ2) | NP_001281275.1:n.-76+11716C>T | |
| NM_001367996.1:c.-76+9565C>T (NINJ2) | NP_001354925.1:n.-76+9565C>T | |
| NM_016533.6:c.33+31533C>T (NINJ2) MANE Select | NP_057617.3:n.33+31533C>T | |
| NR_160428.1:n.126+11716C>T (NINJ2) |