Canonical Allele Identifier: CA482270817

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124228337G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743790G>A , CM000674.2:g.123743790G>A	GRCh38
NC_000012.11:g.124228337G>A , CM000674.1:g.124228337G>A	GRCh37
NC_000012.10:g.122794290G>A	NCBI36
NG_012743.1:g.36473G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1044G>A MANE Select	ENSP00000332247.2:p.Glu348=
ENST00000540368.6:n.1075G>A
ENST00000674794.1:c.1132G>A
ENST00000675260.1:n.319G>A
ENST00000675344.1:c.*65G>A	ENSP00000501953.1:n.*65G>A
ENST00000330342.7:c.1044G>A	ENSP00000332247.2:p.Glu348=
ENST00000504192.2:c.654G>A	ENSP00000443441.1:p.Glu218=
ENST00000536426.1:n.61G>A
ENST00000545059.5:n.3680G>A
NM_012463.3:c.1044G>A	NP_036595.2:p.Glu348=
XM_005253563.1:c.1044G>A	XP_005253620.1:p.Glu348=
XM_006719317.2:c.531G>A	XP_006719380.1:p.Glu177=
XM_006719318.2:c.222G>A	XP_006719381.1:p.Glu74=
XR_429088.1:n.1207G>A
XM_024448910.1:c.1044G>A	XP_024304678.1:p.Glu348=
XM_024448911.1:c.531G>A	XP_024304679.1:p.Glu177=
XM_024448912.1:c.222G>A	XP_024304680.1:p.Glu74=
NM_012463.4:c.1044G>A MANE Select	NP_036595.2:p.Glu348=