Canonical Allele Identifier: CA482452299

Gene: ATP6V0A2

Linked Data

• COSMIC: COSM430629
• MyVariant Identifiers: chr12:g.124229203G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744656G>A , CM000674.2:g.123744656G>A	GRCh38
NC_000012.11:g.124229203G>A , CM000674.1:g.124229203G>A	GRCh37
NC_000012.10:g.122795156G>A	NCBI36
NG_012743.1:g.37339G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1386G>A MANE Select	ENSP00000332247.2:p.Val462=
ENST00000540368.6:n.1417G>A
ENST00000674794.1:c.1474G>A
ENST00000675260.1:n.661G>A
ENST00000675344.1:c.*407G>A	ENSP00000501953.1:n.*407G>A
ENST00000330342.7:c.1386G>A	ENSP00000332247.2:p.Val462=
ENST00000536426.1:n.403G>A
ENST00000545059.5:n.4022G>A
NM_012463.3:c.1386G>A	NP_036595.2:p.Val462=
XM_005253563.1:c.1386G>A	XP_005253620.1:p.Val462=
XM_006719317.2:c.873G>A	XP_006719380.1:p.Val291=
XM_006719318.2:c.564G>A	XP_006719381.1:p.Val188=
XR_429088.1:n.1549G>A
XM_024448910.1:c.1386G>A	XP_024304678.1:p.Val462=
XM_024448911.1:c.873G>A	XP_024304679.1:p.Val291=
XM_024448912.1:c.564G>A	XP_024304680.1:p.Val188=
NM_012463.4:c.1386G>A MANE Select	NP_036595.2:p.Val462=