Canonical Allele Identifier: CA145335
Gene: ATP6AP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 88756
ClinVar RCV Id: RCV000074407
dbSNP Id: rs397518480

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.40597293C>T , CM000685.2:g.40597293C>T GRCh38
NC_000023.10:g.40456545C>T , CM000685.1:g.40456545C>T GRCh37
NC_000023.9:g.40341489C>T NCBI36
NG_008874.1:g.21330C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378438.9:c.345C>T ENSP00000367697.5:p.Ser115=
ENST00000423649.2:c.301-1388C>T ENSP00000410105.2:n.301-1388C>T
ENST00000436783.6:c.198C>T ENSP00000403969.2:p.Ser66=
ENST00000447485.6:c.345C>T ENSP00000411317.2:p.Ser115=
ENST00000479120.2:n.376C>T
ENST00000486558.6:c.73-234C>T ENSP00000490706.1:n.73-234C>T
ENST00000635734.1:c.113C>T ENSP00000489653.1:p.Pro38Leu
ENST00000635774.1:c.345C>T ENSP00000490733.1:p.Ser115=
ENST00000635829.1:n.108-1388C>T
ENST00000636196.1:c.345C>T ENSP00000490675.1:p.Ser115=
ENST00000636251.1:c.117C>T ENSP00000489920.1:p.Ser39=
ENST00000636287.1:c.301-234C>T ENSP00000490452.1:n.301-234C>T
ENST00000636409.1:c.301-234C>T ENSP00000489819.1:n.301-234C>T
ENST00000636574.1:c.345C>T ENSP00000490345.1:p.Ser115=
ENST00000636580.2:c.345C>T MANE Select ENSP00000490083.1:p.Ser115=
ENST00000636639.1:c.345C>T ENSP00000490382.1:p.Ser115=
ENST00000636787.1:c.345C>T ENSP00000490954.1:p.Ser115=
ENST00000636970.1:c.73-234C>T ENSP00000490462.1:n.73-234C>T
ENST00000637327.1:c.117C>T ENSP00000490558.1:p.Ser39=
ENST00000637482.1:c.73-1388C>T ENSP00000490532.1:n.73-1388C>T
ENST00000637526.1:c.198C>T ENSP00000489845.1:p.Ser66=
ENST00000637614.1:c.97-2299C>T ENSP00000490884.1:n.97-2299C>T
ENST00000637930.1:n.95-459C>T
ENST00000637955.1:c.296C>T
ENST00000638153.1:c.345C>T ENSP00000490239.1:p.Ser115=
ENST00000378438.8:c.345C>T ENSP00000367697.4:p.Ser115=
ENST00000423649.1:c.356-1388C>T
ENST00000436783.5:c.397-234C>T ENSP00000403969.1:n.397-234C>T
ENST00000447485.5:c.269C>T
ENST00000479120.1:n.376C>T
ENST00000486558.5:n.254-234C>T
NM_005765.2:c.345C>T NP_005756.2:p.Ser115=
NM_005765.3:c.345C>T MANE Select NP_005756.2:p.Ser115=