Canonical Allele Identifier: CA245200452

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs766987475
• MyVariant Identifiers: chr12:g.124228789A>G (hg19) ; chr12:g.123744242A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744242A>G , CM000674.2:g.123744242A>G	GRCh38
NC_000012.11:g.124228789A>G , CM000674.1:g.124228789A>G	GRCh37
NC_000012.10:g.122794742A>G	NCBI36
NG_012743.1:g.36925A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000330342.8:c.1231A>G MANE Select	ENSP00000332247.2:p.Met411Val
ENST00000540368.6:n.1262A>G
ENST00000674794.1:c.1319A>G
ENST00000675260.1:n.506A>G
ENST00000675344.1:c.*252A>G	ENSP00000501953.1:n.*252A>G
ENST00000330342.7:c.1231A>G	ENSP00000332247.2:p.Met411Val
ENST00000504192.2:c.841A>G	ENSP00000443441.1:p.Met281Val
ENST00000536426.1:n.248A>G
ENST00000545059.5:n.3867A>G
NM_012463.3:c.1231A>G	NP_036595.2:p.Met411Val
XM_005253563.1:c.1231A>G	XP_005253620.1:p.Met411Val
XM_006719317.2:c.718A>G	XP_006719380.1:p.Met240Val
XM_006719318.2:c.409A>G	XP_006719381.1:p.Met137Val
XR_429088.1:n.1394A>G
XM_024448910.1:c.1231A>G	XP_024304678.1:p.Met411Val
XM_024448911.1:c.718A>G	XP_024304679.1:p.Met240Val
XM_024448912.1:c.409A>G	XP_024304680.1:p.Met137Val
NM_012463.4:c.1231A>G MANE Select	NP_036595.2:p.Met411Val