Linked Data
dbSNP Id:
rs10143078
gnomAD v2:
14-70881489-A-C
gnomAD v3:
14-70414772-A-C
gnomAD v4:
14-70414772-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.70414772A>C , CM000676.2:g.70414772A>C | GRCh38 |
| NC_000014.8:g.70881489A>C , CM000676.1:g.70881489A>C | GRCh37 |
| NC_000014.7:g.69951242A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256366.6:c.64+2128T>G (SYNJ2BP) MANE Select | ENSP00000256366.4:n.64+2128T>G | |
| ENST00000256366.5:c.64+2128T>G (SYNJ2BP) | ENSP00000256366.4:n.64+2128T>G | |
| ENST00000554216.1:n.162+2128T>G (SYNJ2BP) | ||
| ENST00000555276.5:c.-73+2128T>G (SYNJ2BP-COX16) | ENSP00000480746.1:n.-73+2128T>G | |
| ENST00000617124.4:c.64+2128T>G (SYNJ2BP-COX16) | ENSP00000484161.1:n.64+2128T>G | |
| ENST00000617196.4:c.64+2128T>G (SYNJ2BP-COX16) | ENSP00000478757.1:n.64+2128T>G | |
| ENST00000618385.1:c.64+2128T>G (SYNJ2BP-COX16) | ENSP00000477705.1:n.64+2128T>G | |
| ENST00000621525.4:c.64+2128T>G (SYNJ2BP-COX16) | ENSP00000482133.1:n.64+2128T>G | |
| NM_001202547.2:c.64+2128T>G (SYNJ2BP-COX16) | NP_001189476.1:n.64+2128T>G | |
| NM_001202548.2:c.64+2128T>G (SYNJ2BP-COX16) | NP_001189477.1:n.64+2128T>G | |
| NM_001202549.2:c.64+2128T>G (SYNJ2BP-COX16) | NP_001189478.1:n.64+2128T>G | |
| NM_018373.2:c.64+2128T>G (SYNJ2BP) | NP_060843.2:n.64+2128T>G | |
| NM_018373.3:c.64+2128T>G (SYNJ2BP) MANE Select | NP_060843.2:n.64+2128T>G |