Canonical Allele Identifier: CA2069005352
Gene: ATP6V0A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123744652C= , CM000674.2:g.123744652C= GRCh38
NC_000012.11:g.124229199C= , CM000674.1:g.124229199C= GRCh37
NC_000012.10:g.122795152C= NCBI36
NG_012743.1:g.37335C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000330342.8:c.1382C= MANE Select ENSP00000332247.2:p.Ser461=
ENST00000540368.6:n.1413C=
ENST00000674794.1:c.1470C=
ENST00000675260.1:n.657C=
ENST00000675344.1:c.*403C= ENSP00000501953.1:n.*403C=
ENST00000330342.7:c.1382C= ENSP00000332247.2:p.Ser461=
ENST00000536426.1:n.399C=
ENST00000545059.5:n.4018C=
NM_012463.3:c.1382C= NP_036595.2:p.Ser461=
XM_005253563.1:c.1382C= XP_005253620.1:p.Ser461=
XM_006719317.2:c.869C= XP_006719380.1:p.Ser290=
XM_006719318.2:c.560C= XP_006719381.1:p.Ser187=
XR_429088.1:n.1545C=
XM_024448910.1:c.1382C= XP_024304678.1:p.Ser461=
XM_024448911.1:c.869C= XP_024304679.1:p.Ser290=
XM_024448912.1:c.560C= XP_024304680.1:p.Ser187=
NM_012463.4:c.1382C= MANE Select NP_036595.2:p.Ser461=