Canonical Allele Identifier: CA342140
Gene: ATP6V0A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21502
ClinVar RCV Id: RCV000020691
dbSNP Id: rs80356754
MyVariant Identifiers: chr12:g.124221619del (hg19) chr12:g.123737072del (hg38)
PubMed: PMID:18157129 PMID:20301755
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123737073del , CM000674.2:g.123737073del GRCh38
NC_000012.11:g.124221620del , CM000674.1:g.124221620del GRCh37
NC_000012.10:g.122787573del NCBI36
NG_012743.1:g.29756del

Transcript Alleles

HGVS Amino-acid change
ENST00000330342.8:c.840del MANE Select ENSP00000332247.2:p.Glu281ArgfsTer4
ENST00000540368.6:n.871del
ENST00000613625.5:c.840del ENSP00000482236.1:p.Glu281ArgfsTer4
ENST00000674794.1:c.928del
ENST00000675344.1:c.840del ENSP00000501953.1:p.Glu281ArgfsTer4
ENST00000330342.7:c.840del ENSP00000332247.2:p.Glu281ArgfsTer4
ENST00000504192.2:c.450del ENSP00000443441.1:p.Glu151ArgfsTer4
ENST00000540368.5:n.1050del
ENST00000545059.5:n.3476del
ENST00000613625.4:c.840del ENSP00000482236.1:p.Glu281ArgfsTer4
NM_012463.3:c.840del NP_036595.2:p.Glu281ArgfsTer4
XM_005253563.1:c.840del XP_005253620.1:p.Glu281ArgfsTer4
XM_006719317.2:c.327del XP_006719380.1:p.Glu110ArgfsTer4
XM_006719318.2:c.18del XP_006719381.1:p.Glu7ArgfsTer4
XR_429088.1:n.1003del
XM_024448910.1:c.840del XP_024304678.1:p.Glu281ArgfsTer4
XM_024448911.1:c.327del XP_024304679.1:p.Glu110ArgfsTer4
XM_024448912.1:c.18del XP_024304680.1:p.Glu7ArgfsTer4
NM_012463.4:c.840del MANE Select NP_036595.2:p.Glu281ArgfsTer4
Search 100 bp 5'
Search 100 bp 3'