Canonical Allele Identifier: CA2069003686

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123754537C= , CM000674.2:g.123754537C=	GRCh38
NC_000012.11:g.124239084C= , CM000674.1:g.124239084C=	GRCh37
NC_000012.10:g.122805037C=	NCBI36
NG_012743.1:g.47220C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.2293C= MANE Select	ENSP00000332247.2:p.Gln765=
ENST00000540368.6:n.2324C=
ENST00000674794.1:c.2381C=
ENST00000675344.1:c.*1314C=	ENSP00000501953.1:n.*1314C=
ENST00000330342.7:c.2293C=	ENSP00000332247.2:p.Gln765=
ENST00000534943.5:c.133C=	ENSP00000443726.1:p.Gln45=
ENST00000544833.1:c.139C=	ENSP00000441143.1:p.Gln47=
NM_012463.3:c.2293C=	NP_036595.2:p.Gln765=
XM_005253563.1:c.2173C=	XP_005253620.1:p.Gln725=
XM_006719317.2:c.1780C=	XP_006719380.1:p.Gln594=
XM_006719318.2:c.1471C=	XP_006719381.1:p.Gln491=
XR_429088.1:n.2456C=
XM_024448910.1:c.2173C=	XP_024304678.1:p.Gln725=
XM_024448911.1:c.1780C=	XP_024304679.1:p.Gln594=
XM_024448912.1:c.1471C=	XP_024304680.1:p.Gln491=
NM_012463.4:c.2293C= MANE Select	NP_036595.2:p.Gln765=