Canonical Allele Identifier: CA342132

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 21495
• ClinVar RCV Id: RCV000020684
• dbSNP Id: rs80356756
• MyVariant Identifiers: chr12:g.124233326del (hg19) ; chr12:g.123748779del (hg38)
• PubMed: PMID:18157129 ; PMID:20301755

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123748779del , CM000674.2:g.123748779del	GRCh38
NC_000012.11:g.124233326del , CM000674.1:g.124233326del	GRCh37
NC_000012.10:g.122799279del	NCBI36
NG_012743.1:g.41462del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1929del MANE Select	ENSP00000332247.2:p.Gln645ArgfsTer?
ENST00000540368.6:n.1960del
ENST00000674794.1:c.2017del
ENST00000675260.1:n.1204del
ENST00000675344.1:c.*950del	ENSP00000501953.1:n.*950del
ENST00000330342.7:c.1929del	ENSP00000332247.2:p.Gln645ArgfsTer?
NM_012463.3:c.1929del	NP_036595.2:p.Gln645ArgfsTer?
XM_005253563.1:c.1929del	XP_005253620.1:p.Gln645ArgfsTer7
XM_006719317.2:c.1416del	XP_006719380.1:p.Gln474ArgfsTer?
XM_006719318.2:c.1107del	XP_006719381.1:p.Gln371ArgfsTer?
XR_429088.1:n.2092del
XM_024448910.1:c.1929del	XP_024304678.1:p.Gln645ArgfsTer7
XM_024448911.1:c.1416del	XP_024304679.1:p.Gln474ArgfsTer?
XM_024448912.1:c.1107del	XP_024304680.1:p.Gln371ArgfsTer?
NM_012463.4:c.1929del MANE Select	NP_036595.2:p.Gln645ArgfsTer?