Canonical Allele Identifier: CA6862220

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 307597
• ClinVar RCV Id: RCV000320280 ; RCV001582944 ; RCV002494961 ; RCV002520797
• dbSNP Id: rs762614200
• ExAC: 12:124241401 G / T
• gnomAD v2: 12-124241401-G-T
• gnomAD v3: 12-123756854-G-T
• gnomAD v4: 12-123756854-G-T
• MyVariant Identifiers: chr12:g.124241401G>T (hg19) ; chr12:g.123756854G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123756854G>T , CM000674.2:g.123756854G>T	GRCh38
NC_000012.11:g.124241401G>T , CM000674.1:g.124241401G>T	GRCh37
NC_000012.10:g.122807354G>T	NCBI36
NG_012743.1:g.49537G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.2333G>T MANE Select	ENSP00000332247.2:p.Gly778Val
ENST00000675344.1:c.*1354G>T	ENSP00000501953.1:n.*1354G>T
ENST00000330342.7:c.2333G>T	ENSP00000332247.2:p.Gly778Val
ENST00000534943.5:c.173G>T	ENSP00000443726.1:p.Gly58Val
ENST00000543687.1:n.528G>T
ENST00000544833.1:c.179G>T	ENSP00000441143.1:p.Gly60Val
NM_012463.3:c.2333G>T	NP_036595.2:p.Gly778Val
XM_005253563.1:c.2213G>T	XP_005253620.1:p.Gly738Val
XM_006719317.2:c.1820G>T	XP_006719380.1:p.Gly607Val
XM_006719318.2:c.1511G>T	XP_006719381.1:p.Gly504Val
XR_429088.1:n.2496G>T
XM_024448910.1:c.2213G>T	XP_024304678.1:p.Gly738Val
XM_024448911.1:c.1820G>T	XP_024304679.1:p.Gly607Val
XM_024448912.1:c.1511G>T	XP_024304680.1:p.Gly504Val
NM_012463.4:c.2333G>T MANE Select	NP_036595.2:p.Gly778Val