Canonical Allele Identifier: CA6861890

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs761843727
• ExAC: 12:124228836 CTT / C
• gnomAD v2: 12-124228836-CTT-C
• gnomAD v3: 12-123744289-CTT-C
• gnomAD v4: 12-123744289-CTT-C
• MyVariant Identifiers: chr12:g.124228837_124228838del (hg19) ; chr12:g.123744290_123744291del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744290_123744291del , CM000674.2:g.123744290_123744291del	GRCh38
NC_000012.11:g.124228837_124228838del , CM000674.1:g.124228837_124228838del	GRCh37
NC_000012.10:g.122794790_122794791del	NCBI36
NG_012743.1:g.36973_36974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1279_1280del MANE Select	ENSP00000332247.2:p.Leu427ValfsTer5
ENST00000540368.6:n.1310_1311del
ENST00000674794.1:c.1367_1368del
ENST00000675260.1:n.554_555del
ENST00000675344.1:c.*300_*301del	ENSP00000501953.1:n.*300_*301del
ENST00000330342.7:c.1279_1280del	ENSP00000332247.2:p.Leu427ValfsTer5
ENST00000504192.2:c.889_890del	ENSP00000443441.1:p.Leu297ValfsTer5
ENST00000536426.1:n.296_297del
ENST00000545059.5:n.3915_3916del
NM_012463.3:c.1279_1280del	NP_036595.2:p.Leu427ValfsTer5
XM_005253563.1:c.1279_1280del	XP_005253620.1:p.Leu427ValfsTer5
XM_006719317.2:c.766_767del	XP_006719380.1:p.Leu256ValfsTer5
XM_006719318.2:c.457_458del	XP_006719381.1:p.Leu153ValfsTer5
XR_429088.1:n.1442_1443del
XM_024448910.1:c.1279_1280del	XP_024304678.1:p.Leu427ValfsTer5
XM_024448911.1:c.766_767del	XP_024304679.1:p.Leu256ValfsTer5
XM_024448912.1:c.457_458del	XP_024304680.1:p.Leu153ValfsTer5
NM_012463.4:c.1279_1280del MANE Select	NP_036595.2:p.Leu427ValfsTer5