Canonical Allele Identifier: CA387157305

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124229159T>G (hg19) ; chr12:g.123744612T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744612T>G , CM000674.2:g.123744612T>G	GRCh38
NC_000012.11:g.124229159T>G , CM000674.1:g.124229159T>G	GRCh37
NC_000012.10:g.122795112T>G	NCBI36
NG_012743.1:g.37295T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1342T>G MANE Select	ENSP00000332247.2:p.Phe448Val
ENST00000540368.6:n.1373T>G
ENST00000674794.1:c.1430T>G
ENST00000675260.1:n.617T>G
ENST00000675344.1:c.*363T>G	ENSP00000501953.1:n.*363T>G
ENST00000330342.7:c.1342T>G	ENSP00000332247.2:p.Phe448Val
ENST00000504192.2:c.952T>G	ENSP00000443441.1:p.Phe318Val
ENST00000536426.1:n.359T>G
ENST00000545059.5:n.3978T>G
NM_012463.3:c.1342T>G	NP_036595.2:p.Phe448Val
XM_005253563.1:c.1342T>G	XP_005253620.1:p.Phe448Val
XM_006719317.2:c.829T>G	XP_006719380.1:p.Phe277Val
XM_006719318.2:c.520T>G	XP_006719381.1:p.Phe174Val
XR_429088.1:n.1505T>G
XM_024448910.1:c.1342T>G	XP_024304678.1:p.Phe448Val
XM_024448911.1:c.829T>G	XP_024304679.1:p.Phe277Val
XM_024448912.1:c.520T>G	XP_024304680.1:p.Phe174Val
NM_012463.4:c.1342T>G MANE Select	NP_036595.2:p.Phe448Val