Canonical Allele Identifier: CA342139

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 21501
• ClinVar RCV Id: RCV000020690 ; RCV002281042 ; RCV003502507
• dbSNP Id: rs80356753
• gnomAD v4: 12-123735529-A-G
• MyVariant Identifiers: chr12:g.124220076A>G (hg19) ; chr12:g.123735529A>G (hg38)
• PubMed: PMID:18157129 ; PMID:20301755

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123735529A>G , CM000674.2:g.123735529A>G	GRCh38
NC_000012.11:g.124220076A>G , CM000674.1:g.124220076A>G	GRCh37
NC_000012.10:g.122786029A>G	NCBI36
NG_012743.1:g.28212A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.732-2A>G MANE Select	ENSP00000332247.2:n.732-2A>G
ENST00000540368.6:n.763-2A>G
ENST00000613625.5:c.732-2A>G	ENSP00000482236.1:n.732-2A>G
ENST00000674794.1:c.172-2A>G
ENST00000675344.1:c.732-2A>G	ENSP00000501953.1:n.732-2A>G
ENST00000330342.7:c.732-2A>G	ENSP00000332247.2:n.732-2A>G
ENST00000504192.2:c.342-2A>G	ENSP00000443441.1:n.342-2A>G
ENST00000540368.5:n.942-2A>G
ENST00000545059.5:n.3368-2A>G
ENST00000613625.4:c.732-2A>G	ENSP00000482236.1:n.732-2A>G
NM_012463.3:c.732-2A>G	NP_036595.2:n.732-2A>G
XM_005253563.1:c.732-2A>G	XP_005253620.1:n.732-2A>G
XM_006719317.2:c.219-2A>G	XP_006719380.1:n.219-2A>G
XR_429088.1:n.895-2A>G
XM_024448910.1:c.732-2A>G	XP_024304678.1:n.732-2A>G
XM_024448911.1:c.219-2A>G	XP_024304679.1:n.219-2A>G
NM_012463.4:c.732-2A>G MANE Select	NP_036595.2:n.732-2A>G