Canonical Allele Identifier: CA387153831

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124220084C>A (hg19) ; chr12:g.123735537C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123735537C>A , CM000674.2:g.123735537C>A	GRCh38
NC_000012.11:g.124220084C>A , CM000674.1:g.124220084C>A	GRCh37
NC_000012.10:g.122786037C>A	NCBI36
NG_012743.1:g.28220C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.738C>A MANE Select	ENSP00000332247.2:p.His246Gln
ENST00000540368.6:n.769C>A
ENST00000613625.5:c.738C>A	ENSP00000482236.1:p.His246Gln
ENST00000674794.1:c.178C>A
ENST00000675344.1:c.738C>A	ENSP00000501953.1:p.His246Gln
ENST00000330342.7:c.738C>A	ENSP00000332247.2:p.His246Gln
ENST00000504192.2:c.348C>A	ENSP00000443441.1:p.His116Gln
ENST00000540368.5:n.948C>A
ENST00000545059.5:n.3374C>A
ENST00000613625.4:c.738C>A	ENSP00000482236.1:p.His246Gln
NM_012463.3:c.738C>A	NP_036595.2:p.His246Gln
XM_005253563.1:c.738C>A	XP_005253620.1:p.His246Gln
XM_006719317.2:c.225C>A	XP_006719380.1:p.His75Gln
XR_429088.1:n.901C>A
XM_024448910.1:c.738C>A	XP_024304678.1:p.His246Gln
XM_024448911.1:c.225C>A	XP_024304679.1:p.His75Gln
NM_012463.4:c.738C>A MANE Select	NP_036595.2:p.His246Gln