Canonical Allele Identifier: CA6861659
Gene: ATP6V0A2 HGNC NCBI
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123727774G>A , CM000674.2:g.123727774G>A GRCh38
NC_000012.11:g.124212321G>A , CM000674.1:g.124212321G>A GRCh37
NC_000012.10:g.122778274G>A NCBI36
NG_012743.1:g.20457G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330342.8:c.522-9G>A MANE Select ENSP00000332247.2:n.522-9G>A
ENST00000540368.6:n.553-9G>A
ENST00000613625.5:c.522-9G>A ENSP00000482236.1:n.522-9G>A
ENST00000675344.1:c.522-9G>A ENSP00000501953.1:n.522-9G>A
ENST00000330342.7:c.522-9G>A ENSP00000332247.2:n.522-9G>A
ENST00000504192.2:c.132-9G>A ENSP00000443441.1:n.132-9G>A
ENST00000540368.5:n.732-9G>A
ENST00000613625.4:c.522-9G>A ENSP00000482236.1:n.522-9G>A
NM_012463.3:c.522-9G>A NP_036595.2:n.522-9G>A
XM_005253563.1:c.522-9G>A XP_005253620.1:n.522-9G>A
XM_006719317.2:c.9-9G>A XP_006719380.1:n.9-9G>A
XR_429088.1:n.685-9G>A
XM_024448910.1:c.522-9G>A XP_024304678.1:n.522-9G>A
XM_024448911.1:c.9-9G>A XP_024304679.1:n.9-9G>A
NM_012463.4:c.522-9G>A MANE Select NP_036595.2:n.522-9G>A