Canonical Allele Identifier: CA387157586
Gene: ATP6V0A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 446884
ClinVar RCV Id: RCV000518196
dbSNP Id: rs1555298476

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123744671C>G , CM000674.2:g.123744671C>G GRCh38
NC_000012.11:g.124229218C>G , CM000674.1:g.124229218C>G GRCh37
NC_000012.10:g.122795171C>G NCBI36
NG_012743.1:g.37354C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000330342.8:c.1401C>G MANE Select ENSP00000332247.2:p.Ile467Met
ENST00000540368.6:n.1432C>G
ENST00000674794.1:c.1489C>G
ENST00000675260.1:n.676C>G
ENST00000675344.1:c.*422C>G ENSP00000501953.1:n.*422C>G
ENST00000330342.7:c.1401C>G ENSP00000332247.2:p.Ile467Met
ENST00000536426.1:n.418C>G
ENST00000545059.5:n.4037C>G
NM_012463.3:c.1401C>G NP_036595.2:p.Ile467Met
XM_005253563.1:c.1401C>G XP_005253620.1:p.Ile467Met
XM_006719317.2:c.888C>G XP_006719380.1:p.Ile296Met
XM_006719318.2:c.579C>G XP_006719381.1:p.Ile193Met
XR_429088.1:n.1564C>G
XM_024448910.1:c.1401C>G XP_024304678.1:p.Ile467Met
XM_024448911.1:c.888C>G XP_024304679.1:p.Ile296Met
XM_024448912.1:c.579C>G XP_024304680.1:p.Ile193Met
NM_012463.4:c.1401C>G MANE Select NP_036595.2:p.Ile467Met