Canonical Allele Identifier: CA2425627804
Gene: ATP6AP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.40597833T>A , CM000685.2:g.40597833T>A GRCh38
NC_000023.10:g.40457085T>A , CM000685.1:g.40457085T>A GRCh37
NC_000023.9:g.40342029T>A NCBI36
NG_008874.1:g.21870T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378438.9:c.534+169T>A ENSP00000367697.5:n.534+169T>A
ENST00000423649.2:c.301-848T>A ENSP00000410105.2:n.301-848T>A
ENST00000447485.6:c.534+169T>A ENSP00000411317.2:n.534+169T>A
ENST00000479120.2:n.565+169T>A
ENST00000486558.6:c.210+169T>A ENSP00000490706.1:n.210+169T>A
ENST00000635734.1:c.*122+169T>A ENSP00000489653.1:n.*122+169T>A
ENST00000635774.1:c.534+169T>A ENSP00000490733.1:n.534+169T>A
ENST00000635829.1:n.108-848T>A
ENST00000636196.1:c.534+169T>A ENSP00000490675.1:n.534+169T>A
ENST00000636251.1:c.306+169T>A ENSP00000489920.1:n.306+169T>A
ENST00000636287.1:c.438+169T>A ENSP00000490452.1:n.438+169T>A
ENST00000636409.1:c.438+169T>A ENSP00000489819.1:n.438+169T>A
ENST00000636574.1:c.*100+169T>A ENSP00000490345.1:n.*100+169T>A
ENST00000636580.2:c.534+169T>A MANE Select ENSP00000490083.1:n.534+169T>A
ENST00000636639.1:c.534+169T>A ENSP00000490382.1:n.534+169T>A
ENST00000636787.1:c.534+169T>A ENSP00000490954.1:n.534+169T>A
ENST00000636970.1:c.210+169T>A ENSP00000490462.1:n.210+169T>A
ENST00000637019.1:n.47+169T>A
ENST00000637140.1:n.146+169T>A
ENST00000637327.1:c.306+169T>A ENSP00000490558.1:n.306+169T>A
ENST00000637482.1:c.73-848T>A ENSP00000490532.1:n.73-848T>A
ENST00000637526.1:c.387+169T>A ENSP00000489845.1:n.387+169T>A
ENST00000637614.1:c.97-1759T>A ENSP00000490884.1:n.97-1759T>A
ENST00000637793.1:n.267T>A
ENST00000637930.1:n.176T>A
ENST00000637955.1:c.485+169T>A
ENST00000638046.1:n.94+169T>A
ENST00000638153.1:c.534+169T>A ENSP00000490239.1:n.534+169T>A
ENST00000378438.8:c.534+169T>A ENSP00000367697.4:n.534+169T>A
ENST00000423649.1:c.356-848T>A
ENST00000436783.5:c.534+169T>A ENSP00000403969.1:n.534+169T>A
ENST00000447485.5:c.458+169T>A
ENST00000486558.5:n.391+169T>A
NM_005765.2:c.534+169T>A NP_005756.2:n.534+169T>A
NM_005765.3:c.534+169T>A MANE Select NP_005756.2:n.534+169T>A