Canonical Allele Identifier: CA6861817

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 1197440
• ClinVar RCV Id: RCV001561267
• dbSNP Id: rs117654599
• ExAC: 12:124228300 T / A
• gnomAD v2: 12-124228300-T-A
• gnomAD v3: 12-123743753-T-A
• gnomAD v4: 12-123743753-T-A
• MyVariant Identifiers: chr12:g.124228300T>A (hg19) ; chr12:g.123743753T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743753T>A , CM000674.2:g.123743753T>A	GRCh38
NC_000012.11:g.124228300T>A , CM000674.1:g.124228300T>A	GRCh37
NC_000012.10:g.122794253T>A	NCBI36
NG_012743.1:g.36436T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000330342.8:c.1039-32T>A MANE Select	ENSP00000332247.2:n.1039-32T>A
ENST00000540368.6:n.1070-32T>A
ENST00000674794.1:c.1127-32T>A
ENST00000675260.1:n.282T>A
ENST00000675344.1:c.*60-32T>A	ENSP00000501953.1:n.*60-32T>A
ENST00000330342.7:c.1039-32T>A	ENSP00000332247.2:n.1039-32T>A
ENST00000504192.2:c.649-32T>A	ENSP00000443441.1:n.649-32T>A
ENST00000536426.1:n.56-32T>A
ENST00000545059.5:n.3675-32T>A
NM_012463.3:c.1039-32T>A	NP_036595.2:n.1039-32T>A
XM_005253563.1:c.1039-32T>A	XP_005253620.1:n.1039-32T>A
XM_006719317.2:c.526-32T>A	XP_006719380.1:n.526-32T>A
XM_006719318.2:c.217-32T>A	XP_006719381.1:n.217-32T>A
XR_429088.1:n.1202-32T>A
XM_024448910.1:c.1039-32T>A	XP_024304678.1:n.1039-32T>A
XM_024448911.1:c.526-32T>A	XP_024304679.1:n.526-32T>A
XM_024448912.1:c.217-32T>A	XP_024304680.1:n.217-32T>A
NM_012463.4:c.1039-32T>A MANE Select	NP_036595.2:n.1039-32T>A