Canonical Allele Identifier: CA16044023
Gene: ATP6AP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 375269
dbSNP Id: rs1057519331

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.40589122T>A , CM000685.2:g.40589122T>A GRCh38
NC_000023.10:g.40448374T>A , CM000685.1:g.40448374T>A GRCh37
NC_000023.9:g.40333318T>A NCBI36
NG_008874.1:g.13159T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378438.9:c.168+6T>A ENSP00000367697.5:n.168+6T>A
ENST00000423649.2:c.168+6T>A ENSP00000410105.2:n.168+6T>A
ENST00000436783.6:c.21+6T>A ENSP00000403969.2:n.21+6T>A
ENST00000447485.6:c.168+6T>A ENSP00000411317.2:n.168+6T>A
ENST00000486558.6:c.-60-2112T>A ENSP00000490706.1:n.-60-2112T>A
ENST00000487051.2:n.334+6T>A
ENST00000635734.1:c.-60-2112T>A ENSP00000489653.1:n.-60-2112T>A
ENST00000635774.1:c.168+6T>A ENSP00000490733.1:n.168+6T>A
ENST00000636196.1:c.168+6T>A ENSP00000490675.1:n.168+6T>A
ENST00000636251.1:c.-60-2112T>A ENSP00000489920.1:n.-60-2112T>A
ENST00000636287.1:c.168+6T>A ENSP00000490452.1:n.168+6T>A
ENST00000636409.1:c.168+6T>A ENSP00000489819.1:n.168+6T>A
ENST00000636574.1:c.168+6T>A ENSP00000490345.1:n.168+6T>A
ENST00000636580.2:c.168+6T>A MANE Select ENSP00000490083.1:n.168+6T>A
ENST00000636639.1:c.168+6T>A ENSP00000490382.1:n.168+6T>A
ENST00000636787.1:c.168+6T>A ENSP00000490954.1:n.168+6T>A
ENST00000636970.1:c.-60-2112T>A ENSP00000490462.1:n.-60-2112T>A
ENST00000637327.1:c.-60-2112T>A ENSP00000490558.1:n.-60-2112T>A
ENST00000637482.1:c.-60-2112T>A ENSP00000490532.1:n.-60-2112T>A
ENST00000637526.1:c.21+6T>A ENSP00000489845.1:n.21+6T>A
ENST00000637954.1:n.245T>A
ENST00000637955.1:c.119+6T>A
ENST00000638153.1:c.168+6T>A ENSP00000490239.1:n.168+6T>A
ENST00000378438.8:c.168+6T>A ENSP00000367697.4:n.168+6T>A
ENST00000423649.1:c.223+6T>A
ENST00000436783.5:c.264+6T>A ENSP00000403969.1:n.264+6T>A
ENST00000447485.5:c.93-2112T>A
ENST00000486558.5:n.122-2112T>A
ENST00000487051.1:n.124+6T>A
NM_005765.2:c.168+6T>A NP_005756.2:n.168+6T>A
NM_005765.3:c.168+6T>A MANE Select NP_005756.2:n.168+6T>A