Canonical Allele Identifier: CA412754505

Gene: ATP6AP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.40591358T>C , CM000685.2:g.40591358T>C	GRCh38
NC_000023.10:g.40450610T>C , CM000685.1:g.40450610T>C	GRCh37
NC_000023.9:g.40335554T>C	NCBI36
NG_008874.1:g.15395T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005765.3:c.293T>C MANE Select	NP_005756.2:p.Leu98Ser
ENST00000636580.2:c.293T>C MANE Select	ENSP00000490083.1:p.Leu98Ser
NM_005765.2:c.293T>C	NP_005756.2:p.Leu98Ser
ENST00000378438.8:c.293T>C	ENSP00000367697.4:p.Leu98Ser
ENST00000378438.9:c.293T>C	ENSP00000367697.5:p.Leu98Ser
ENST00000423649.1:c.348T>C
ENST00000423649.2:c.293T>C	ENSP00000410105.2:p.Leu98Ser
ENST00000436783.5:c.389T>C	ENSP00000403969.1:p.Leu130Ser
ENST00000436783.6:c.146T>C	ENSP00000403969.2:p.Leu49Ser
ENST00000447485.5:c.217T>C
ENST00000447485.6:c.293T>C	ENSP00000411317.2:p.Leu98Ser
ENST00000486558.5:n.246T>C
ENST00000486558.6:c.65T>C	ENSP00000490706.1:p.Leu22Ser
ENST00000487051.1:n.249T>C
ENST00000487051.2:n.459T>C
ENST00000635734.1:c.65T>C	ENSP00000489653.1:p.Leu22Ser
ENST00000635774.1:c.293T>C	ENSP00000490733.1:p.Leu98Ser
ENST00000635829.1:n.100T>C
ENST00000636196.1:c.293T>C	ENSP00000490675.1:p.Leu98Ser
ENST00000636251.1:c.65T>C	ENSP00000489920.1:p.Leu22Ser
ENST00000636287.1:c.293T>C	ENSP00000490452.1:p.Leu98Ser
ENST00000636409.1:c.293T>C	ENSP00000489819.1:p.Leu98Ser
ENST00000636574.1:c.293T>C	ENSP00000490345.1:p.Leu98Ser
ENST00000636639.1:c.293T>C	ENSP00000490382.1:p.Leu98Ser
ENST00000636787.1:c.293T>C	ENSP00000490954.1:p.Leu98Ser
ENST00000636970.1:c.65T>C	ENSP00000490462.1:p.Leu22Ser
ENST00000637327.1:c.65T>C	ENSP00000490558.1:p.Leu22Ser
ENST00000637482.1:c.65T>C	ENSP00000490532.1:p.Leu22Ser
ENST00000637526.1:c.146T>C	ENSP00000489845.1:p.Leu49Ser
ENST00000637614.1:c.89T>C	ENSP00000490884.1:p.Leu30Ser
ENST00000637954.1:n.2481T>C
ENST00000637955.1:c.244T>C
ENST00000638153.1:c.293T>C	ENSP00000490239.1:p.Leu98Ser