Canonical Allele Identifier: CA223052

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 845
• ClinVar RCV Id: RCV000000888 ; RCV000790836 ; RCV003502506 ; RCV004526587
• dbSNP Id: rs80356750
• gnomAD v2: 12-124203239-C-T
• gnomAD v3: 12-123718692-C-T
• gnomAD v4: 12-123718692-C-T
• MyVariant Identifiers: chr12:g.124203239C>T (hg19) ; chr12:g.123718692C>T (hg38)
• PubMed: PMID:15657616 ; PMID:18157129 ; PMID:20301755 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123718692C>T , CM000674.2:g.123718692C>T	GRCh38
NC_000012.11:g.124203239C>T , CM000674.1:g.124203239C>T	GRCh37
NC_000012.10:g.122769192C>T	NCBI36
NG_012743.1:g.11375C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.187C>T MANE Select	ENSP00000332247.2:p.Arg63Ter
ENST00000540368.6:n.218C>T
ENST00000613625.5:c.187C>T	ENSP00000482236.1:p.Arg63Ter
ENST00000675344.1:c.187C>T	ENSP00000501953.1:p.Arg63Ter
ENST00000676034.1:n.170C>T
ENST00000330342.7:c.187C>T	ENSP00000332247.2:p.Arg63Ter
ENST00000540368.5:n.397C>T
ENST00000613625.4:c.187C>T	ENSP00000482236.1:p.Arg63Ter
NM_012463.3:c.187C>T	NP_036595.2:p.Arg63Ter
XM_005253563.1:c.187C>T	XP_005253620.1:p.Arg63Ter
XR_429088.1:n.350C>T
XR_945477.1:n.1100-3129G>A
XR_945478.1:n.1100-3129G>A
XR_945479.1:n.1100-3129G>A
XM_024448910.1:c.187C>T	XP_024304678.1:p.Arg63Ter
XR_945477.3:n.492-3129G>A
XR_945478.3:n.492-3129G>A
NM_012463.4:c.187C>T MANE Select	NP_036595.2:p.Arg63Ter