Canonical Allele Identifier: CA482452219

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 2023110
• ClinVar RCV Id: RCV002857705
• dbSNP Id: rs1468237160
• gnomAD v2: 12-124229170-G-A
• gnomAD v4: 12-123744623-G-A
• MyVariant Identifiers: chr12:g.124229170G>A (hg19) ; chr12:g.123744623G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744623G>A , CM000674.2:g.123744623G>A	GRCh38
NC_000012.11:g.124229170G>A , CM000674.1:g.124229170G>A	GRCh37
NC_000012.10:g.122795123G>A	NCBI36
NG_012743.1:g.37306G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1353G>A MANE Select	ENSP00000332247.2:p.Arg451=
ENST00000540368.6:n.1384G>A
ENST00000674794.1:c.1441G>A
ENST00000675260.1:n.628G>A
ENST00000675344.1:c.*374G>A	ENSP00000501953.1:n.*374G>A
ENST00000330342.7:c.1353G>A	ENSP00000332247.2:p.Arg451=
ENST00000504192.2:c.963G>A	ENSP00000443441.1:p.Arg321=
ENST00000536426.1:n.370G>A
ENST00000545059.5:n.3989G>A
NM_012463.3:c.1353G>A	NP_036595.2:p.Arg451=
XM_005253563.1:c.1353G>A	XP_005253620.1:p.Arg451=
XM_006719317.2:c.840G>A	XP_006719380.1:p.Arg280=
XM_006719318.2:c.531G>A	XP_006719381.1:p.Arg177=
XR_429088.1:n.1516G>A
XM_024448910.1:c.1353G>A	XP_024304678.1:p.Arg451=
XM_024448911.1:c.840G>A	XP_024304679.1:p.Arg280=
XM_024448912.1:c.531G>A	XP_024304680.1:p.Arg177=
NM_012463.4:c.1353G>A MANE Select	NP_036595.2:p.Arg451=