Canonical Allele Identifier: CA2575342410

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744386C>A , CM000674.2:g.123744386C>A	GRCh38
NC_000012.11:g.124228933C>A , CM000674.1:g.124228933C>A	GRCh37
NC_000012.10:g.122794886C>A	NCBI36
NG_012743.1:g.37069C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1326+49C>A MANE Select	ENSP00000332247.2:n.1326+49C>A
ENST00000540368.6:n.1357+49C>A
ENST00000674794.1:c.1414+49C>A
ENST00000675260.1:n.601+49C>A
ENST00000675344.1:c.*347+49C>A	ENSP00000501953.1:n.*347+49C>A
ENST00000330342.7:c.1326+49C>A	ENSP00000332247.2:n.1326+49C>A
ENST00000504192.2:c.936+49C>A	ENSP00000443441.1:n.936+49C>A
ENST00000536426.1:n.343+49C>A
ENST00000545059.5:n.3962+49C>A
NM_012463.3:c.1326+49C>A	NP_036595.2:n.1326+49C>A
XM_005253563.1:c.1326+49C>A	XP_005253620.1:n.1326+49C>A
XM_006719317.2:c.813+49C>A	XP_006719380.1:n.813+49C>A
XM_006719318.2:c.504+49C>A	XP_006719381.1:n.504+49C>A
XR_429088.1:n.1489+49C>A
XM_024448910.1:c.1326+49C>A	XP_024304678.1:n.1326+49C>A
XM_024448911.1:c.813+49C>A	XP_024304679.1:n.813+49C>A
XM_024448912.1:c.504+49C>A	XP_024304680.1:n.504+49C>A
NM_012463.4:c.1326+49C>A MANE Select	NP_036595.2:n.1326+49C>A