Canonical Allele Identifier: CA6861989

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 386006
• ClinVar RCV Id: RCV000421277 ; RCV001114687 ; RCV001517104
• dbSNP Id: rs112415338
• ExAC: 12:124232142 G / A
• gnomAD v2: 12-124232142-G-A
• gnomAD v3: 12-123747595-G-A
• gnomAD v4: 12-123747595-G-A
• MyVariant Identifiers: chr12:g.124232142G>A (hg19) ; chr12:g.124232142_124232143delinsAT (hg19) ; chr12:g.123747595G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123747595G>A , CM000674.2:g.123747595G>A	GRCh38
NC_000012.11:g.124232142G>A , CM000674.1:g.124232142G>A	GRCh37
NC_000012.10:g.122798095G>A	NCBI36
NG_012743.1:g.40278G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1606-12G>A MANE Select	ENSP00000332247.2:n.1606-12G>A
ENST00000540368.6:n.1637-12G>A
ENST00000674794.1:c.1694-12G>A
ENST00000675260.1:n.881-12G>A
ENST00000675344.1:c.*627-12G>A	ENSP00000501953.1:n.*627-12G>A
ENST00000330342.7:c.1606-12G>A	ENSP00000332247.2:n.1606-12G>A
ENST00000536426.1:n.623-12G>A
NM_012463.3:c.1606-12G>A	NP_036595.2:n.1606-12G>A
XM_005253563.1:c.1606-12G>A	XP_005253620.1:n.1606-12G>A
XM_006719317.2:c.1093-12G>A	XP_006719380.1:n.1093-12G>A
XM_006719318.2:c.784-12G>A	XP_006719381.1:n.784-12G>A
XR_429088.1:n.1769-12G>A
XM_024448910.1:c.1606-12G>A	XP_024304678.1:n.1606-12G>A
XM_024448911.1:c.1093-12G>A	XP_024304679.1:n.1093-12G>A
XM_024448912.1:c.784-12G>A	XP_024304680.1:n.784-12G>A
NM_012463.4:c.1606-12G>A MANE Select	NP_036595.2:n.1606-12G>A