Canonical Allele Identifier: CA6861920

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 2872401
• ClinVar RCV Id: RCV003610579
• dbSNP Id: rs537270055
• ExAC: 12:124229208 C / G
• gnomAD v2: 12-124229208-C-G
• gnomAD v3: 12-123744661-C-G
• gnomAD v4: 12-123744661-C-G
• MyVariant Identifiers: chr12:g.124229208C>G (hg19) ; chr12:g.123744661C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744661C>G , CM000674.2:g.123744661C>G	GRCh38
NC_000012.11:g.124229208C>G , CM000674.1:g.124229208C>G	GRCh37
NC_000012.10:g.122795161C>G	NCBI36
NG_012743.1:g.37344C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1391C>G MANE Select	ENSP00000332247.2:p.Thr464Ser
ENST00000540368.6:n.1422C>G
ENST00000674794.1:c.1479C>G
ENST00000675260.1:n.666C>G
ENST00000675344.1:c.*412C>G	ENSP00000501953.1:n.*412C>G
ENST00000330342.7:c.1391C>G	ENSP00000332247.2:p.Thr464Ser
ENST00000536426.1:n.408C>G
ENST00000545059.5:n.4027C>G
NM_012463.3:c.1391C>G	NP_036595.2:p.Thr464Ser
XM_005253563.1:c.1391C>G	XP_005253620.1:p.Thr464Ser
XM_006719317.2:c.878C>G	XP_006719380.1:p.Thr293Ser
XM_006719318.2:c.569C>G	XP_006719381.1:p.Thr190Ser
XR_429088.1:n.1554C>G
XM_024448910.1:c.1391C>G	XP_024304678.1:p.Thr464Ser
XM_024448911.1:c.878C>G	XP_024304679.1:p.Thr293Ser
XM_024448912.1:c.569C>G	XP_024304680.1:p.Thr190Ser
NM_012463.4:c.1391C>G MANE Select	NP_036595.2:p.Thr464Ser