Canonical Allele Identifier: CA608101979

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs1182781574
• gnomAD v2: 12-124229021-AG-A
• gnomAD v3: 12-123744474-AG-A
• gnomAD v4: 12-123744474-AG-A
• MyVariant Identifiers: chr12:g.124229022del (hg19) ; chr12:g.123744475del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744477del , CM000674.2:g.123744477del	GRCh38
NC_000012.11:g.124229024del , CM000674.1:g.124229024del	GRCh37
NC_000012.10:g.122794977del	NCBI36
NG_012743.1:g.37160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1327-120del MANE Select	ENSP00000332247.2:n.1327-120del
ENST00000540368.6:n.1358-120del
ENST00000674794.1:c.1415-120del
ENST00000675260.1:n.602-120del
ENST00000675344.1:c.*348-120del	ENSP00000501953.1:n.*348-120del
ENST00000330342.7:c.1327-120del	ENSP00000332247.2:n.1327-120del
ENST00000504192.2:c.937-120del	ENSP00000443441.1:n.937-120del
ENST00000536426.1:n.344-120del
ENST00000545059.5:n.3963-120del
NM_012463.3:c.1327-120del	NP_036595.2:n.1327-120del
XM_005253563.1:c.1327-120del	XP_005253620.1:n.1327-120del
XM_006719317.2:c.814-120del	XP_006719380.1:n.814-120del
XM_006719318.2:c.505-120del	XP_006719381.1:n.505-120del
XR_429088.1:n.1490-120del
XM_024448910.1:c.1327-120del	XP_024304678.1:n.1327-120del
XM_024448911.1:c.814-120del	XP_024304679.1:n.814-120del
XM_024448912.1:c.505-120del	XP_024304680.1:n.505-120del
NM_012463.4:c.1327-120del MANE Select	NP_036595.2:n.1327-120del