Canonical Allele Identifier: CA482270989
Gene: ATP6V0A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.124228866A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123744319A>G , CM000674.2:g.123744319A>G GRCh38
NC_000012.11:g.124228866A>G , CM000674.1:g.124228866A>G GRCh37
NC_000012.10:g.122794819A>G NCBI36
NG_012743.1:g.37002A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330342.8:c.1308A>G MANE Select ENSP00000332247.2:p.Arg436=
ENST00000540368.6:n.1339A>G
ENST00000674794.1:c.1396A>G
ENST00000675260.1:n.583A>G
ENST00000675344.1:c.*329A>G ENSP00000501953.1:n.*329A>G
ENST00000330342.7:c.1308A>G ENSP00000332247.2:p.Arg436=
ENST00000504192.2:c.918A>G ENSP00000443441.1:p.Arg306=
ENST00000536426.1:n.325A>G
ENST00000545059.5:n.3944A>G
NM_012463.3:c.1308A>G NP_036595.2:p.Arg436=
XM_005253563.1:c.1308A>G XP_005253620.1:p.Arg436=
XM_006719317.2:c.795A>G XP_006719380.1:p.Arg265=
XM_006719318.2:c.486A>G XP_006719381.1:p.Arg162=
XR_429088.1:n.1471A>G
XM_024448910.1:c.1308A>G XP_024304678.1:p.Arg436=
XM_024448911.1:c.795A>G XP_024304679.1:p.Arg265=
XM_024448912.1:c.486A>G XP_024304680.1:p.Arg162=
NM_012463.4:c.1308A>G MANE Select NP_036595.2:p.Arg436=