Canonical Allele Identifier: CA2621700821

Gene: ATP6V0A2

Linked Data

• gnomAD v4: 12-123744220-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744222del , CM000674.2:g.123744222del	GRCh38
NC_000012.11:g.124228769del , CM000674.1:g.124228769del	GRCh37
NC_000012.10:g.122794722del	NCBI36
NG_012743.1:g.36905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1211del MANE Select	ENSP00000332247.2:p.Phe404SerfsTer7
ENST00000540368.6:n.1242del
ENST00000674794.1:c.1299del
ENST00000675260.1:n.486del
ENST00000675344.1:c.*232del	ENSP00000501953.1:n.*232del
ENST00000330342.7:c.1211del	ENSP00000332247.2:p.Phe404SerfsTer7
ENST00000504192.2:c.821del	ENSP00000443441.1:p.Phe274SerfsTer7
ENST00000536426.1:n.228del
ENST00000545059.5:n.3847del
NM_012463.3:c.1211del	NP_036595.2:p.Phe404SerfsTer7
XM_005253563.1:c.1211del	XP_005253620.1:p.Phe404SerfsTer7
XM_006719317.2:c.698del	XP_006719380.1:p.Phe233SerfsTer7
XM_006719318.2:c.389del	XP_006719381.1:p.Phe130SerfsTer7
XR_429088.1:n.1374del
XM_024448910.1:c.1211del	XP_024304678.1:p.Phe404SerfsTer7
XM_024448911.1:c.698del	XP_024304679.1:p.Phe233SerfsTer7
XM_024448912.1:c.389del	XP_024304680.1:p.Phe130SerfsTer7
NM_012463.4:c.1211del MANE Select	NP_036595.2:p.Phe404SerfsTer7