Canonical Allele Identifier: CA2069004193
Gene: ATP6V0A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123744060A= , CM000674.2:g.123744060A= GRCh38
NC_000012.11:g.124228607A= , CM000674.1:g.124228607A= GRCh37
NC_000012.10:g.122794560A= NCBI36
NG_012743.1:g.36743A=

Transcript Alleles

HGVS Amino-acid change
ENST00000330342.8:c.1189+125A= MANE Select ENSP00000332247.2:n.1189+125A=
ENST00000540368.6:n.1220+125A=
ENST00000674794.1:c.1277+125A=
ENST00000675260.1:n.464+125A=
ENST00000675344.1:c.*210+125A= ENSP00000501953.1:n.*210+125A=
ENST00000330342.7:c.1189+125A= ENSP00000332247.2:n.1189+125A=
ENST00000504192.2:c.799+125A= ENSP00000443441.1:n.799+125A=
ENST00000536426.1:n.206+125A=
ENST00000545059.5:n.3825+125A=
NM_012463.3:c.1189+125A= NP_036595.2:n.1189+125A=
XM_005253563.1:c.1189+125A= XP_005253620.1:n.1189+125A=
XM_006719317.2:c.676+125A= XP_006719380.1:n.676+125A=
XM_006719318.2:c.367+125A= XP_006719381.1:n.367+125A=
XR_429088.1:n.1352+125A=
XM_024448910.1:c.1189+125A= XP_024304678.1:n.1189+125A=
XM_024448911.1:c.676+125A= XP_024304679.1:n.676+125A=
XM_024448912.1:c.367+125A= XP_024304680.1:n.367+125A=
NM_012463.4:c.1189+125A= MANE Select NP_036595.2:n.1189+125A=