Canonical Allele Identifier: CA6861892

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs764604721
• ExAC: 12:124228852 GA / G
• gnomAD v2: 12-124228852-GA-G
• gnomAD v4: 12-123744305-GA-G
• MyVariant Identifiers: chr12:g.124228853del (hg19) ; chr12:g.123744306del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744309del , CM000674.2:g.123744309del	GRCh38
NC_000012.11:g.124228856del , CM000674.1:g.124228856del	GRCh37
NC_000012.10:g.122794809del	NCBI36
NG_012743.1:g.36992del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1298del MANE Select	ENSP00000332247.2:p.Asn433IlefsTer5
ENST00000540368.6:n.1329del
ENST00000674794.1:c.1386del
ENST00000675260.1:n.573del
ENST00000675344.1:c.*319del	ENSP00000501953.1:n.*319del
ENST00000330342.7:c.1298del	ENSP00000332247.2:p.Asn433IlefsTer5
ENST00000504192.2:c.908del	ENSP00000443441.1:p.Asn303IlefsTer5
ENST00000536426.1:n.315del
ENST00000545059.5:n.3934del
NM_012463.3:c.1298del	NP_036595.2:p.Asn433IlefsTer5
XM_005253563.1:c.1298del	XP_005253620.1:p.Asn433IlefsTer5
XM_006719317.2:c.785del	XP_006719380.1:p.Asn262IlefsTer5
XM_006719318.2:c.476del	XP_006719381.1:p.Asn159IlefsTer5
XR_429088.1:n.1461del
XM_024448910.1:c.1298del	XP_024304678.1:p.Asn433IlefsTer5
XM_024448911.1:c.785del	XP_024304679.1:p.Asn262IlefsTer5
XM_024448912.1:c.476del	XP_024304680.1:p.Asn159IlefsTer5
NM_012463.4:c.1298del MANE Select	NP_036595.2:p.Asn433IlefsTer5