Canonical Allele Identifier: CA223051

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 95519
• ClinVar RCV Id: RCV000174367 ; RCV002498429 ; RCV003502514
• dbSNP Id: rs374480381
• gnomAD v2: 12-124229332-G-A
• gnomAD v3: 12-123744785-G-A
• gnomAD v4: 12-123744785-G-A
• MyVariant Identifiers: chr12:g.124229332G>A (hg19) ; chr12:g.123744785G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744785G>A , CM000674.2:g.123744785G>A	GRCh38
NC_000012.11:g.124229332G>A , CM000674.1:g.124229332G>A	GRCh37
NC_000012.10:g.122795285G>A	NCBI36
NG_012743.1:g.37468G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1514+1G>A MANE Select	ENSP00000332247.2:n.1514+1G>A
ENST00000540368.6:n.1545+1G>A
ENST00000674794.1:c.1602+1G>A
ENST00000675260.1:n.789+1G>A
ENST00000675344.1:c.*535+1G>A	ENSP00000501953.1:n.*535+1G>A
ENST00000330342.7:c.1514+1G>A	ENSP00000332247.2:n.1514+1G>A
ENST00000536426.1:n.531+1G>A
ENST00000545059.5:n.4150+1G>A
NM_012463.3:c.1514+1G>A	NP_036595.2:n.1514+1G>A
XM_005253563.1:c.1514+1G>A	XP_005253620.1:n.1514+1G>A
XM_006719317.2:c.1001+1G>A	XP_006719380.1:n.1001+1G>A
XM_006719318.2:c.692+1G>A	XP_006719381.1:n.692+1G>A
XR_429088.1:n.1677+1G>A
XM_024448910.1:c.1514+1G>A	XP_024304678.1:n.1514+1G>A
XM_024448911.1:c.1001+1G>A	XP_024304679.1:n.1001+1G>A
XM_024448912.1:c.692+1G>A	XP_024304680.1:n.692+1G>A
NM_012463.4:c.1514+1G>A MANE Select	NP_036595.2:n.1514+1G>A