Canonical Allele Identifier: CA10640522
Gene: ATP6V0A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 307636
ClinVar RCV Id: RCV000364215
dbSNP Id: rs886049076
gnomAD v3: 12-123761074-T-G
gnomAD v4: 12-123761074-T-G
MyVariant Identifiers: chr12:g.124245621T>G (hg19) chr12:g.123761074T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123761074T>G , CM000674.2:g.123761074T>G GRCh38
NC_000012.11:g.124245621T>G , CM000674.1:g.124245621T>G GRCh37
NC_000012.10:g.122811574T>G NCBI36
NG_012743.1:g.53757T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330342.8:c.*3042T>G MANE Select ENSP00000332247.2:n.*3042T>G
ENST00000330342.7:c.*3042T>G ENSP00000332247.2:n.*3042T>G
NM_012463.3:c.*3042T>G NP_036595.2:n.*3042T>G
NM_012463.4:c.*3042T>G MANE Select NP_036595.2:n.*3042T>G
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