Canonical Allele Identifier: CA482270912

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs775345155
• MyVariant Identifiers: chr12:g.124228752C>G (hg19) ; chr12:g.123744205C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744205C>G , CM000674.2:g.123744205C>G	GRCh38
NC_000012.11:g.124228752C>G , CM000674.1:g.124228752C>G	GRCh37
NC_000012.10:g.122794705C>G	NCBI36
NG_012743.1:g.36888C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1194C>G MANE Select	ENSP00000332247.2:p.Leu398=
ENST00000540368.6:n.1225C>G
ENST00000674794.1:c.1282C>G
ENST00000675260.1:n.469C>G
ENST00000675344.1:c.*215C>G	ENSP00000501953.1:n.*215C>G
ENST00000330342.7:c.1194C>G	ENSP00000332247.2:p.Leu398=
ENST00000504192.2:c.804C>G	ENSP00000443441.1:p.Leu268=
ENST00000536426.1:n.211C>G
ENST00000545059.5:n.3830C>G
NM_012463.3:c.1194C>G	NP_036595.2:p.Leu398=
XM_005253563.1:c.1194C>G	XP_005253620.1:p.Leu398=
XM_006719317.2:c.681C>G	XP_006719380.1:p.Leu227=
XM_006719318.2:c.372C>G	XP_006719381.1:p.Leu124=
XR_429088.1:n.1357C>G
XM_024448910.1:c.1194C>G	XP_024304678.1:p.Leu398=
XM_024448911.1:c.681C>G	XP_024304679.1:p.Leu227=
XM_024448912.1:c.372C>G	XP_024304680.1:p.Leu124=
NM_012463.4:c.1194C>G MANE Select	NP_036595.2:p.Leu398=