Canonical Allele Identifier: CA10636731
Gene: ATP6V0A2 HGNC NCBI
ClinVar RCV:
RCV000331687
RCV001582945
ClinVar Variation:
307601
dbSNP:
150408179
gnomAD v2:
12:124242770 T / C
gnomAD v3:
12:123758223 T / C
gnomAD v4:
chr12-123758223-T-C
Joint Max Group AF 0.0064669 (NFE)
Genomes Max Group AF 0.00596869 (NFE)
Exomes Max Group AF 0.00651137 (NFE)
MyVariant.info:
GRCh38 chr12:g.123758223T>C
GRCh37 chr12:g.124242770T>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123758223T>C , CM000674.2:g.123758223T>C GRCh38
NC_000012.11:g.124242770T>C , CM000674.1:g.124242770T>C GRCh37
NC_000012.10:g.122808723T>C NCBI36
NG_012743.1:g.50906T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330342.8:c.*191T>C MANE Select ENSP00000332247.2:n.*191T>C
ENST00000675344.1:c.*1783T>C ENSP00000501953.1:n.*1783T>C
ENST00000330342.7:c.*191T>C ENSP00000332247.2:n.*191T>C
ENST00000543687.1:n.957T>C
NM_012463.3:c.*191T>C NP_036595.2:n.*191T>C
XM_005253563.1:c.*191T>C XP_005253620.1:n.*191T>C
XM_006719317.2:c.*191T>C XP_006719380.1:n.*191T>C
XM_006719318.2:c.*191T>C XP_006719381.1:n.*191T>C
XR_429088.1:n.2925T>C
XM_024448910.1:c.*191T>C XP_024304678.1:n.*191T>C
XM_024448911.1:c.*191T>C XP_024304679.1:n.*191T>C
XM_024448912.1:c.*191T>C XP_024304680.1:n.*191T>C
NM_012463.4:c.*191T>C MANE Select NP_036595.2:n.*191T>C
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