Canonical Allele Identifier: CA342137

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 21499
• ClinVar RCV Id: RCV000000889 ; RCV000020688
• dbSNP Id: rs80356751
• gnomAD v4: 12-123722449-G-A
• MyVariant Identifiers: chr12:g.124206996G>A (hg19) ; chr12:g.123722449G>A (hg38)
• PubMed: PMID:18157129 ; PMID:20301755

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123722449G>A , CM000674.2:g.123722449G>A	GRCh38
NC_000012.11:g.124206996G>A , CM000674.1:g.124206996G>A	GRCh37
NC_000012.10:g.122772949G>A	NCBI36
NG_012743.1:g.15132G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000330342.8:c.294+1G>A MANE Select	ENSP00000332247.2:n.294+1G>A
ENST00000540368.6:n.325+1G>A
ENST00000613625.5:c.294+1G>A	ENSP00000482236.1:n.294+1G>A
ENST00000675344.1:c.294+1G>A	ENSP00000501953.1:n.294+1G>A
ENST00000330342.7:c.294+1G>A	ENSP00000332247.2:n.294+1G>A
ENST00000540368.5:n.504+1G>A
ENST00000613625.4:c.294+1G>A	ENSP00000482236.1:n.294+1G>A
NM_012463.3:c.294+1G>A	NP_036595.2:n.294+1G>A
XM_005253563.1:c.294+1G>A	XP_005253620.1:n.294+1G>A
XR_429088.1:n.457+1G>A
XR_945477.1:n.1099+561C>T
XR_945478.1:n.1099+561C>T
XR_945479.1:n.1099+561C>T
XM_024448910.1:c.294+1G>A	XP_024304678.1:n.294+1G>A
XR_945477.3:n.491+561C>T
XR_945478.3:n.491+561C>T
NM_012463.4:c.294+1G>A MANE Select	NP_036595.2:n.294+1G>A