Canonical Allele Identifier: CA2069003977

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743926G= , CM000674.2:g.123743926G=	GRCh38
NC_000012.11:g.124228473G= , CM000674.1:g.124228473G=	GRCh37
NC_000012.10:g.122794426G=	NCBI36
NG_012743.1:g.36609G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1180G= MANE Select	ENSP00000332247.2:p.Val394=
ENST00000540368.6:n.1211G=
ENST00000674794.1:c.1268G=
ENST00000675260.1:n.455G=
ENST00000675344.1:c.*201G=	ENSP00000501953.1:n.*201G=
ENST00000330342.7:c.1180G=	ENSP00000332247.2:p.Val394=
ENST00000504192.2:c.790G=	ENSP00000443441.1:p.Val264=
ENST00000536426.1:n.197G=
ENST00000545059.5:n.3816G=
NM_012463.3:c.1180G=	NP_036595.2:p.Val394=
XM_005253563.1:c.1180G=	XP_005253620.1:p.Val394=
XM_006719317.2:c.667G=	XP_006719380.1:p.Val223=
XM_006719318.2:c.358G=	XP_006719381.1:p.Val120=
XR_429088.1:n.1343G=
XM_024448910.1:c.1180G=	XP_024304678.1:p.Val394=
XM_024448911.1:c.667G=	XP_024304679.1:p.Val223=
XM_024448912.1:c.358G=	XP_024304680.1:p.Val120=
NM_012463.4:c.1180G= MANE Select	NP_036595.2:p.Val394=