Canonical Allele Identifier: CA2069005256

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744615A= , CM000674.2:g.123744615A=	GRCh38
NC_000012.11:g.124229162A= , CM000674.1:g.124229162A=	GRCh37
NC_000012.10:g.122795115A=	NCBI36
NG_012743.1:g.37298A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1345A= MANE Select	ENSP00000332247.2:p.Asn449=
ENST00000540368.6:n.1376A=
ENST00000674794.1:c.1433A=
ENST00000675260.1:n.620A=
ENST00000675344.1:c.*366A=	ENSP00000501953.1:n.*366A=
ENST00000330342.7:c.1345A=	ENSP00000332247.2:p.Asn449=
ENST00000504192.2:c.955A=	ENSP00000443441.1:p.Asn319=
ENST00000536426.1:n.362A=
ENST00000545059.5:n.3981A=
NM_012463.3:c.1345A=	NP_036595.2:p.Asn449=
XM_005253563.1:c.1345A=	XP_005253620.1:p.Asn449=
XM_006719317.2:c.832A=	XP_006719380.1:p.Asn278=
XM_006719318.2:c.523A=	XP_006719381.1:p.Asn175=
XR_429088.1:n.1508A=
XM_024448910.1:c.1345A=	XP_024304678.1:p.Asn449=
XM_024448911.1:c.832A=	XP_024304679.1:p.Asn278=
XM_024448912.1:c.523A=	XP_024304680.1:p.Asn175=
NM_012463.4:c.1345A= MANE Select	NP_036595.2:p.Asn449=