Canonical Allele Identifier: CA6861844

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs778381327
• ExAC: 12:124228404 C / G
• gnomAD v2: 12-124228404-C-G
• MyVariant Identifiers: chr12:g.124228404C>G (hg19) ; chr12:g.123743857C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743857C>G , CM000674.2:g.123743857C>G	GRCh38
NC_000012.11:g.124228404C>G , CM000674.1:g.124228404C>G	GRCh37
NC_000012.10:g.122794357C>G	NCBI36
NG_012743.1:g.36540C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1111C>G MANE Select	ENSP00000332247.2:p.Arg371Gly
ENST00000540368.6:n.1142C>G
ENST00000674794.1:c.1199C>G
ENST00000675260.1:n.386C>G
ENST00000675344.1:c.*132C>G	ENSP00000501953.1:n.*132C>G
ENST00000330342.7:c.1111C>G	ENSP00000332247.2:p.Arg371Gly
ENST00000504192.2:c.721C>G	ENSP00000443441.1:p.Arg241Gly
ENST00000536426.1:n.128C>G
ENST00000545059.5:n.3747C>G
NM_012463.3:c.1111C>G	NP_036595.2:p.Arg371Gly
XM_005253563.1:c.1111C>G	XP_005253620.1:p.Arg371Gly
XM_006719317.2:c.598C>G	XP_006719380.1:p.Arg200Gly
XM_006719318.2:c.289C>G	XP_006719381.1:p.Arg97Gly
XR_429088.1:n.1274C>G
XM_024448910.1:c.1111C>G	XP_024304678.1:p.Arg371Gly
XM_024448911.1:c.598C>G	XP_024304679.1:p.Arg200Gly
XM_024448912.1:c.289C>G	XP_024304680.1:p.Arg97Gly
NM_012463.4:c.1111C>G MANE Select	NP_036595.2:p.Arg371Gly