Canonical Allele Identifier: CA387154176

Gene: ATP6V0A2

Linked Data

• gnomAD v3: 12-123737077-G-A
• gnomAD v4: 12-123737077-G-A
• MyVariant Identifiers: chr12:g.124221624G>A (hg19) ; chr12:g.123737077G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123737077G>A , CM000674.2:g.123737077G>A	GRCh38
NC_000012.11:g.124221624G>A , CM000674.1:g.124221624G>A	GRCh37
NC_000012.10:g.122787577G>A	NCBI36
NG_012743.1:g.29760G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.844G>A MANE Select	ENSP00000332247.2:p.Asp282Asn
ENST00000540368.6:n.875G>A
ENST00000613625.5:c.844G>A	ENSP00000482236.1:p.Asp282Asn
ENST00000674794.1:c.932G>A
ENST00000675344.1:c.844G>A	ENSP00000501953.1:p.Asp282Asn
ENST00000330342.7:c.844G>A	ENSP00000332247.2:p.Asp282Asn
ENST00000504192.2:c.454G>A	ENSP00000443441.1:p.Asp152Asn
ENST00000540368.5:n.1054G>A
ENST00000545059.5:n.3480G>A
ENST00000613625.4:c.844G>A	ENSP00000482236.1:p.Asp282Asn
NM_012463.3:c.844G>A	NP_036595.2:p.Asp282Asn
XM_005253563.1:c.844G>A	XP_005253620.1:p.Asp282Asn
XM_006719317.2:c.331G>A	XP_006719380.1:p.Asp111Asn
XM_006719318.2:c.22G>A	XP_006719381.1:p.Asp8Asn
XR_429088.1:n.1007G>A
XM_024448910.1:c.844G>A	XP_024304678.1:p.Asp282Asn
XM_024448911.1:c.331G>A	XP_024304679.1:p.Asp111Asn
XM_024448912.1:c.22G>A	XP_024304680.1:p.Asp8Asn
NM_012463.4:c.844G>A MANE Select	NP_036595.2:p.Asp282Asn