Canonical Allele Identifier: CA6862185

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123754538G>A , CM000674.2:g.123754538G>A	GRCh38
NC_000012.11:g.124239085G>A , CM000674.1:g.124239085G>A	GRCh37
NC_000012.10:g.122805038G>A	NCBI36
NG_012743.1:g.47221G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012463.4:c.2293+1G>A MANE Select	NP_036595.2:n.2293+1G>A
ENST00000330342.8:c.2293+1G>A MANE Select	ENSP00000332247.2:n.2293+1G>A
NM_012463.3:c.2293+1G>A	NP_036595.2:n.2293+1G>A
ENST00000330342.7:c.2293+1G>A	ENSP00000332247.2:n.2293+1G>A
ENST00000534943.5:c.133+1G>A	ENSP00000443726.1:n.133+1G>A
ENST00000540368.6:n.2325G>A
ENST00000544833.1:c.139+1G>A	ENSP00000441143.1:n.139+1G>A
ENST00000674794.1:c.2382G>A
ENST00000675344.1:c.*1314+1G>A	ENSP00000501953.1:n.*1314+1G>A
XM_005253563.1:c.2173+1G>A	XP_005253620.1:n.2173+1G>A
XM_006719317.2:c.1780+1G>A	XP_006719380.1:n.1780+1G>A
XM_006719318.2:c.1471+1G>A	XP_006719381.1:n.1471+1G>A
XM_024448910.1:c.2173+1G>A	XP_024304678.1:n.2173+1G>A
XM_024448911.1:c.1780+1G>A	XP_024304679.1:n.1780+1G>A
XM_024448912.1:c.1471+1G>A	XP_024304680.1:n.1471+1G>A
XR_429088.1:n.2456+1G>A