Canonical Allele Identifier: CA2069004424
Gene: ATP6V0A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123744209A= , CM000674.2:g.123744209A= GRCh38
NC_000012.11:g.124228756A= , CM000674.1:g.124228756A= GRCh37
NC_000012.10:g.122794709A= NCBI36
NG_012743.1:g.36892A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000330342.8:c.1198A= MANE Select ENSP00000332247.2:p.Thr400=
ENST00000540368.6:n.1229A=
ENST00000674794.1:c.1286A=
ENST00000675260.1:n.473A=
ENST00000675344.1:c.*219A= ENSP00000501953.1:n.*219A=
ENST00000330342.7:c.1198A= ENSP00000332247.2:p.Thr400=
ENST00000504192.2:c.808A= ENSP00000443441.1:p.Thr270=
ENST00000536426.1:n.215A=
ENST00000545059.5:n.3834A=
NM_012463.3:c.1198A= NP_036595.2:p.Thr400=
XM_005253563.1:c.1198A= XP_005253620.1:p.Thr400=
XM_006719317.2:c.685A= XP_006719380.1:p.Thr229=
XM_006719318.2:c.376A= XP_006719381.1:p.Thr126=
XR_429088.1:n.1361A=
XM_024448910.1:c.1198A= XP_024304678.1:p.Thr400=
XM_024448911.1:c.685A= XP_024304679.1:p.Thr229=
XM_024448912.1:c.376A= XP_024304680.1:p.Thr126=
NM_012463.4:c.1198A= MANE Select NP_036595.2:p.Thr400=