Canonical Allele Identifier: CA6861914

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs144722947
• ExAC: 12:124229169 G / A
• gnomAD v2: 12-124229169-G-A
• gnomAD v4: 12-123744622-G-A
• MyVariant Identifiers: chr12:g.124229169G>A (hg19) ; chr12:g.123744622G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744622G>A , CM000674.2:g.123744622G>A	GRCh38
NC_000012.11:g.124229169G>A , CM000674.1:g.124229169G>A	GRCh37
NC_000012.10:g.122795122G>A	NCBI36
NG_012743.1:g.37305G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1352G>A MANE Select	ENSP00000332247.2:p.Arg451Gln
ENST00000540368.6:n.1383G>A
ENST00000674794.1:c.1440G>A
ENST00000675260.1:n.627G>A
ENST00000675344.1:c.*373G>A	ENSP00000501953.1:n.*373G>A
ENST00000330342.7:c.1352G>A	ENSP00000332247.2:p.Arg451Gln
ENST00000504192.2:c.962G>A	ENSP00000443441.1:p.Arg321Gln
ENST00000536426.1:n.369G>A
ENST00000545059.5:n.3988G>A
NM_012463.3:c.1352G>A	NP_036595.2:p.Arg451Gln
XM_005253563.1:c.1352G>A	XP_005253620.1:p.Arg451Gln
XM_006719317.2:c.839G>A	XP_006719380.1:p.Arg280Gln
XM_006719318.2:c.530G>A	XP_006719381.1:p.Arg177Gln
XR_429088.1:n.1515G>A
XM_024448910.1:c.1352G>A	XP_024304678.1:p.Arg451Gln
XM_024448911.1:c.839G>A	XP_024304679.1:p.Arg280Gln
XM_024448912.1:c.530G>A	XP_024304680.1:p.Arg177Gln
NM_012463.4:c.1352G>A MANE Select	NP_036595.2:p.Arg451Gln