Canonical Allele Identifier: CA2621700584
Gene: ATP6V0A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123743661_123743662insC , CM000674.2:g.123743661_123743662insC GRCh38
NC_000012.11:g.124228208_124228209insC , CM000674.1:g.124228208_124228209insC GRCh37
NC_000012.10:g.122794161_122794162insC NCBI36
NG_012743.1:g.36344_36345insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000330342.8:c.1039-124_1039-123insC MANE Select ENSP00000332247.2:n.1039-124_1039-123insC
ENST00000540368.6:n.1070-124_1070-123insC
ENST00000674794.1:c.1127-124_1127-123insC
ENST00000675260.1:n.190_191insC
ENST00000675344.1:c.*60-124_*60-123insC ENSP00000501953.1:n.*60-124_*60-123insC
ENST00000330342.7:c.1039-124_1039-123insC ENSP00000332247.2:n.1039-124_1039-123insC
ENST00000504192.2:c.649-124_649-123insC ENSP00000443441.1:n.649-124_649-123insC
ENST00000536426.1:n.56-124_56-123insC
ENST00000545059.5:n.3675-124_3675-123insC
NM_012463.3:c.1039-124_1039-123insC NP_036595.2:n.1039-124_1039-123insC
XM_005253563.1:c.1039-124_1039-123insC XP_005253620.1:n.1039-124_1039-123insC
XM_006719317.2:c.526-124_526-123insC XP_006719380.1:n.526-124_526-123insC
XM_006719318.2:c.217-124_217-123insC XP_006719381.1:n.217-124_217-123insC
XR_429088.1:n.1202-124_1202-123insC
XM_024448910.1:c.1039-124_1039-123insC XP_024304678.1:n.1039-124_1039-123insC
XM_024448911.1:c.526-124_526-123insC XP_024304679.1:n.526-124_526-123insC
XM_024448912.1:c.217-124_217-123insC XP_024304680.1:n.217-124_217-123insC
NM_012463.4:c.1039-124_1039-123insC MANE Select NP_036595.2:n.1039-124_1039-123insC