Canonical Allele Identifier: CA148588

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 95517
• ClinVar RCV Id: RCV000081544 ; RCV000224475 ; RCV000283557 ; RCV001079902
• dbSNP Id: rs79134187
• ExAC: 12:124228414 A / G
• gnomAD v2: 12-124228414-A-G
• gnomAD v3: 12-123743867-A-G
• gnomAD v4: 12-123743867-A-G
• MyVariant Identifiers: chr12:g.124228414A>G (hg19) ; chr12:g.123743867A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743867A>G , CM000674.2:g.123743867A>G	GRCh38
NC_000012.11:g.124228414A>G , CM000674.1:g.124228414A>G	GRCh37
NC_000012.10:g.122794367A>G	NCBI36
NG_012743.1:g.36550A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1121A>G MANE Select	ENSP00000332247.2:p.Lys374Arg
ENST00000540368.6:n.1152A>G
ENST00000674794.1:c.1209A>G
ENST00000675260.1:n.396A>G
ENST00000675344.1:c.*142A>G	ENSP00000501953.1:n.*142A>G
ENST00000330342.7:c.1121A>G	ENSP00000332247.2:p.Lys374Arg
ENST00000504192.2:c.731A>G	ENSP00000443441.1:p.Lys244Arg
ENST00000536426.1:n.138A>G
ENST00000545059.5:n.3757A>G
NM_012463.3:c.1121A>G	NP_036595.2:p.Lys374Arg
XM_005253563.1:c.1121A>G	XP_005253620.1:p.Lys374Arg
XM_006719317.2:c.608A>G	XP_006719380.1:p.Lys203Arg
XM_006719318.2:c.299A>G	XP_006719381.1:p.Lys100Arg
XR_429088.1:n.1284A>G
XM_024448910.1:c.1121A>G	XP_024304678.1:p.Lys374Arg
XM_024448911.1:c.608A>G	XP_024304679.1:p.Lys203Arg
XM_024448912.1:c.299A>G	XP_024304680.1:p.Lys100Arg
NM_012463.4:c.1121A>G MANE Select	NP_036595.2:p.Lys374Arg