Canonical Allele Identifier: CA2621700744

Gene: ATP6V0A2

Linked Data

• gnomAD v4: 12-123743927-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743928del , CM000674.2:g.123743928del	GRCh38
NC_000012.11:g.124228475del , CM000674.1:g.124228475del	GRCh37
NC_000012.10:g.122794428del	NCBI36
NG_012743.1:g.36611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1182del MANE Select	ENSP00000332247.2:p.Asn395IlefsTer16
ENST00000540368.6:n.1213del
ENST00000674794.1:c.1270del
ENST00000675260.1:n.457del
ENST00000675344.1:c.*203del	ENSP00000501953.1:n.*203del
ENST00000330342.7:c.1182del	ENSP00000332247.2:p.Asn395IlefsTer16
ENST00000504192.2:c.792del	ENSP00000443441.1:p.Asn265IlefsTer16
ENST00000536426.1:n.199del
ENST00000545059.5:n.3818del
NM_012463.3:c.1182del	NP_036595.2:p.Asn395IlefsTer16
XM_005253563.1:c.1182del	XP_005253620.1:p.Asn395IlefsTer16
XM_006719317.2:c.669del	XP_006719380.1:p.Asn224IlefsTer16
XM_006719318.2:c.360del	XP_006719381.1:p.Asn121IlefsTer16
XR_429088.1:n.1345del
XM_024448910.1:c.1182del	XP_024304678.1:p.Asn395IlefsTer16
XM_024448911.1:c.669del	XP_024304679.1:p.Asn224IlefsTer16
XM_024448912.1:c.360del	XP_024304680.1:p.Asn121IlefsTer16
NM_012463.4:c.1182del MANE Select	NP_036595.2:p.Asn395IlefsTer16