Canonical Allele Identifier: CA208571
Gene: ATP6V0A2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.123744756G>A
GRCh37 chr12:g.124229303G>A
Revel Score:
ENST00000330342 (MANE Select) 0.079
gnomAD v2:
12:124229303 G / A
gnomAD v3:
12:123744756 G / A
gnomAD v4:
chr12-123744756-G-A
Joint Max Group AF 0.00618282 (SAS)
Genomes Max Group AF 0.00447939 (SAS)
Exomes Max Group AF 0.00619266 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123744756G>A , CM000674.2:g.123744756G>A GRCh38
NC_000012.11:g.124229303G>A , CM000674.1:g.124229303G>A GRCh37
NC_000012.10:g.122795256G>A NCBI36
NG_012743.1:g.37439G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330342.8:c.1486G>A MANE Select ENSP00000332247.2:p.Ala496Thr
ENST00000540368.6:n.1517G>A
ENST00000674794.1:c.1574G>A
ENST00000675260.1:n.761G>A
ENST00000675344.1:c.*507G>A ENSP00000501953.1:n.*507G>A
ENST00000330342.7:c.1486G>A ENSP00000332247.2:p.Ala496Thr
ENST00000536426.1:n.503G>A
ENST00000545059.5:n.4122G>A
NM_012463.3:c.1486G>A NP_036595.2:p.Ala496Thr
XM_005253563.1:c.1486G>A XP_005253620.1:p.Ala496Thr
XM_006719317.2:c.973G>A XP_006719380.1:p.Ala325Thr
XM_006719318.2:c.664G>A XP_006719381.1:p.Ala222Thr
XR_429088.1:n.1649G>A
XM_024448910.1:c.1486G>A XP_024304678.1:p.Ala496Thr
XM_024448911.1:c.973G>A XP_024304679.1:p.Ala325Thr
XM_024448912.1:c.664G>A XP_024304680.1:p.Ala222Thr
NM_012463.4:c.1486G>A MANE Select NP_036595.2:p.Ala496Thr
Search 100 bp 5'
Search 100 bp 3'