Canonical Allele Identifier: CA482452342

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 2909003
• ClinVar RCV Id: RCV003609738
• dbSNP Id: rs1291351328
• gnomAD v2: 12-124229224-C-T
• gnomAD v3: 12-123744677-C-T
• gnomAD v4: 12-123744677-C-T
• MyVariant Identifiers: chr12:g.124229224C>T (hg19) ; chr12:g.123744677C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744677C>T , CM000674.2:g.123744677C>T	GRCh38
NC_000012.11:g.124229224C>T , CM000674.1:g.124229224C>T	GRCh37
NC_000012.10:g.122795177C>T	NCBI36
NG_012743.1:g.37360C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1407C>T MANE Select	ENSP00000332247.2:p.Asn469=
ENST00000540368.6:n.1438C>T
ENST00000674794.1:c.1495C>T
ENST00000675260.1:n.682C>T
ENST00000675344.1:c.*428C>T	ENSP00000501953.1:n.*428C>T
ENST00000330342.7:c.1407C>T	ENSP00000332247.2:p.Asn469=
ENST00000536426.1:n.424C>T
ENST00000545059.5:n.4043C>T
NM_012463.3:c.1407C>T	NP_036595.2:p.Asn469=
XM_005253563.1:c.1407C>T	XP_005253620.1:p.Asn469=
XM_006719317.2:c.894C>T	XP_006719380.1:p.Asn298=
XM_006719318.2:c.585C>T	XP_006719381.1:p.Asn195=
XR_429088.1:n.1570C>T
XM_024448910.1:c.1407C>T	XP_024304678.1:p.Asn469=
XM_024448911.1:c.894C>T	XP_024304679.1:p.Asn298=
XM_024448912.1:c.585C>T	XP_024304680.1:p.Asn195=
NM_012463.4:c.1407C>T MANE Select	NP_036595.2:p.Asn469=