Canonical Allele Identifier: CA387163290

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123752281A>G , CM000674.2:g.123752281A>G	GRCh38
NC_000012.11:g.124236828A>G , CM000674.1:g.124236828A>G	GRCh37
NC_000012.10:g.122802781A>G	NCBI36
NG_012743.1:g.44964A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_012463.4:c.2056-2A>G MANE Select	NP_036595.2:n.2056-2A>G
ENST00000330342.8:c.2056-2A>G MANE Select	ENSP00000332247.2:n.2056-2A>G
NM_012463.3:c.2056-2A>G	NP_036595.2:n.2056-2A>G
ENST00000330342.7:c.2056-2A>G	ENSP00000332247.2:n.2056-2A>G
ENST00000534943.5:c.-105-2A>G	ENSP00000443726.1:n.-105-2A>G
ENST00000540368.6:n.2087-2A>G
ENST00000674794.1:c.2144-2A>G
ENST00000675260.1:n.1331-2A>G
ENST00000675344.1:c.*1077-2A>G	ENSP00000501953.1:n.*1077-2A>G
XM_005253563.1:c.1936-2A>G	XP_005253620.1:n.1936-2A>G
XM_006719317.2:c.1543-2A>G	XP_006719380.1:n.1543-2A>G
XM_006719318.2:c.1234-2A>G	XP_006719381.1:n.1234-2A>G
XM_024448910.1:c.1936-2A>G	XP_024304678.1:n.1936-2A>G
XM_024448911.1:c.1543-2A>G	XP_024304679.1:n.1543-2A>G
XM_024448912.1:c.1234-2A>G	XP_024304680.1:n.1234-2A>G
XR_429088.1:n.2219-2A>G