Canonical Allele Identifier: CA6861880
Gene: ATP6V0A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1677219
ClinVar RCV Id: RCV002223077
dbSNP Id: rs750788949

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123744225C>T , CM000674.2:g.123744225C>T GRCh38
NC_000012.11:g.124228772C>T , CM000674.1:g.124228772C>T GRCh37
NC_000012.10:g.122794725C>T NCBI36
NG_012743.1:g.36908C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330342.8:c.1214C>T MANE Select ENSP00000332247.2:p.Pro405Leu
ENST00000540368.6:n.1245C>T
ENST00000674794.1:c.1302C>T
ENST00000675260.1:n.489C>T
ENST00000675344.1:c.*235C>T ENSP00000501953.1:n.*235C>T
ENST00000330342.7:c.1214C>T ENSP00000332247.2:p.Pro405Leu
ENST00000504192.2:c.824C>T ENSP00000443441.1:p.Pro275Leu
ENST00000536426.1:n.231C>T
ENST00000545059.5:n.3850C>T
NM_012463.3:c.1214C>T NP_036595.2:p.Pro405Leu
XM_005253563.1:c.1214C>T XP_005253620.1:p.Pro405Leu
XM_006719317.2:c.701C>T XP_006719380.1:p.Pro234Leu
XM_006719318.2:c.392C>T XP_006719381.1:p.Pro131Leu
XR_429088.1:n.1377C>T
XM_024448910.1:c.1214C>T XP_024304678.1:p.Pro405Leu
XM_024448911.1:c.701C>T XP_024304679.1:p.Pro234Leu
XM_024448912.1:c.392C>T XP_024304680.1:p.Pro131Leu
NM_012463.4:c.1214C>T MANE Select NP_036595.2:p.Pro405Leu