Canonical Allele Identifier: CA2069003650

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743792G= , CM000674.2:g.123743792G=	GRCh38
NC_000012.11:g.124228339G= , CM000674.1:g.124228339G=	GRCh37
NC_000012.10:g.122794292G=	NCBI36
NG_012743.1:g.36475G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1046G= MANE Select	ENSP00000332247.2:p.Ser349=
ENST00000540368.6:n.1077G=
ENST00000674794.1:c.1134G=
ENST00000675260.1:n.321G=
ENST00000675344.1:c.*67G=	ENSP00000501953.1:n.*67G=
ENST00000330342.7:c.1046G=	ENSP00000332247.2:p.Ser349=
ENST00000504192.2:c.656G=	ENSP00000443441.1:p.Ser219=
ENST00000536426.1:n.63G=
ENST00000545059.5:n.3682G=
NM_012463.3:c.1046G=	NP_036595.2:p.Ser349=
XM_005253563.1:c.1046G=	XP_005253620.1:p.Ser349=
XM_006719317.2:c.533G=	XP_006719380.1:p.Ser178=
XM_006719318.2:c.224G=	XP_006719381.1:p.Ser75=
XR_429088.1:n.1209G=
XM_024448910.1:c.1046G=	XP_024304678.1:p.Ser349=
XM_024448911.1:c.533G=	XP_024304679.1:p.Ser178=
XM_024448912.1:c.224G=	XP_024304680.1:p.Ser75=
NM_012463.4:c.1046G= MANE Select	NP_036595.2:p.Ser349=