Canonical Allele Identifier: CA2069004465

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744223C= , CM000674.2:g.123744223C=	GRCh38
NC_000012.11:g.124228770C= , CM000674.1:g.124228770C=	GRCh37
NC_000012.10:g.122794723C=	NCBI36
NG_012743.1:g.36906C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1212C= MANE Select	ENSP00000332247.2:p.Phe404=
ENST00000540368.6:n.1243C=
ENST00000674794.1:c.1300C=
ENST00000675260.1:n.487C=
ENST00000675344.1:c.*233C=	ENSP00000501953.1:n.*233C=
ENST00000330342.7:c.1212C=	ENSP00000332247.2:p.Phe404=
ENST00000504192.2:c.822C=	ENSP00000443441.1:p.Phe274=
ENST00000536426.1:n.229C=
ENST00000545059.5:n.3848C=
NM_012463.3:c.1212C=	NP_036595.2:p.Phe404=
XM_005253563.1:c.1212C=	XP_005253620.1:p.Phe404=
XM_006719317.2:c.699C=	XP_006719380.1:p.Phe233=
XM_006719318.2:c.390C=	XP_006719381.1:p.Phe130=
XR_429088.1:n.1375C=
XM_024448910.1:c.1212C=	XP_024304678.1:p.Phe404=
XM_024448911.1:c.699C=	XP_024304679.1:p.Phe233=
XM_024448912.1:c.390C=	XP_024304680.1:p.Phe130=
NM_012463.4:c.1212C= MANE Select	NP_036595.2:p.Phe404=