Canonical Allele Identifier: CA482270932
Gene: ATP6V0A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 508419
dbSNP Id: rs1171365721

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123744226G>A , CM000674.2:g.123744226G>A GRCh38
NC_000012.11:g.124228773G>A , CM000674.1:g.124228773G>A GRCh37
NC_000012.10:g.122794726G>A NCBI36
NG_012743.1:g.36909G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000330342.8:c.1215G>A MANE Select ENSP00000332247.2:p.Pro405=
ENST00000540368.6:n.1246G>A
ENST00000674794.1:c.1303G>A
ENST00000675260.1:n.490G>A
ENST00000675344.1:c.*236G>A ENSP00000501953.1:n.*236G>A
ENST00000330342.7:c.1215G>A ENSP00000332247.2:p.Pro405=
ENST00000504192.2:c.825G>A ENSP00000443441.1:p.Pro275=
ENST00000536426.1:n.232G>A
ENST00000545059.5:n.3851G>A
NM_012463.3:c.1215G>A NP_036595.2:p.Pro405=
XM_005253563.1:c.1215G>A XP_005253620.1:p.Pro405=
XM_006719317.2:c.702G>A XP_006719380.1:p.Pro234=
XM_006719318.2:c.393G>A XP_006719381.1:p.Pro131=
XR_429088.1:n.1378G>A
XM_024448910.1:c.1215G>A XP_024304678.1:p.Pro405=
XM_024448911.1:c.702G>A XP_024304679.1:p.Pro234=
XM_024448912.1:c.393G>A XP_024304680.1:p.Pro131=
NM_012463.4:c.1215G>A MANE Select NP_036595.2:p.Pro405=