Canonical Allele Identifier: CA2575342426

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744528C>G , CM000674.2:g.123744528C>G	GRCh38
NC_000012.11:g.124229075C>G , CM000674.1:g.124229075C>G	GRCh37
NC_000012.10:g.122795028C>G	NCBI36
NG_012743.1:g.37211C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1327-69C>G MANE Select	ENSP00000332247.2:n.1327-69C>G
ENST00000540368.6:n.1358-69C>G
ENST00000674794.1:c.1415-69C>G
ENST00000675260.1:n.602-69C>G
ENST00000675344.1:c.*348-69C>G	ENSP00000501953.1:n.*348-69C>G
ENST00000330342.7:c.1327-69C>G	ENSP00000332247.2:n.1327-69C>G
ENST00000504192.2:c.937-69C>G	ENSP00000443441.1:n.937-69C>G
ENST00000536426.1:n.344-69C>G
ENST00000545059.5:n.3963-69C>G
NM_012463.3:c.1327-69C>G	NP_036595.2:n.1327-69C>G
XM_005253563.1:c.1327-69C>G	XP_005253620.1:n.1327-69C>G
XM_006719317.2:c.814-69C>G	XP_006719380.1:n.814-69C>G
XM_006719318.2:c.505-69C>G	XP_006719381.1:n.505-69C>G
XR_429088.1:n.1490-69C>G
XM_024448910.1:c.1327-69C>G	XP_024304678.1:n.1327-69C>G
XM_024448911.1:c.814-69C>G	XP_024304679.1:n.814-69C>G
XM_024448912.1:c.505-69C>G	XP_024304680.1:n.505-69C>G
NM_012463.4:c.1327-69C>G MANE Select	NP_036595.2:n.1327-69C>G