Canonical Allele Identifier: CA2069004667

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744324A= , CM000674.2:g.123744324A=	GRCh38
NC_000012.11:g.124228871A= , CM000674.1:g.124228871A=	GRCh37
NC_000012.10:g.122794824A=	NCBI36
NG_012743.1:g.37007A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1313A= MANE Select	ENSP00000332247.2:p.Asn438=
ENST00000540368.6:n.1344A=
ENST00000674794.1:c.1401A=
ENST00000675260.1:n.588A=
ENST00000675344.1:c.*334A=	ENSP00000501953.1:n.*334A=
ENST00000330342.7:c.1313A=	ENSP00000332247.2:p.Asn438=
ENST00000504192.2:c.923A=	ENSP00000443441.1:p.Asn308=
ENST00000536426.1:n.330A=
ENST00000545059.5:n.3949A=
NM_012463.3:c.1313A=	NP_036595.2:p.Asn438=
XM_005253563.1:c.1313A=	XP_005253620.1:p.Asn438=
XM_006719317.2:c.800A=	XP_006719380.1:p.Asn267=
XM_006719318.2:c.491A=	XP_006719381.1:p.Asn164=
XR_429088.1:n.1476A=
XM_024448910.1:c.1313A=	XP_024304678.1:p.Asn438=
XM_024448911.1:c.800A=	XP_024304679.1:p.Asn267=
XM_024448912.1:c.491A=	XP_024304680.1:p.Asn164=
NM_012463.4:c.1313A= MANE Select	NP_036595.2:p.Asn438=