Canonical Allele Identifier: CA387154175

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124221623G>T (hg19) ; chr12:g.123737076G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123737076G>T , CM000674.2:g.123737076G>T	GRCh38
NC_000012.11:g.124221623G>T , CM000674.1:g.124221623G>T	GRCh37
NC_000012.10:g.122787576G>T	NCBI36
NG_012743.1:g.29759G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.843G>T MANE Select	ENSP00000332247.2:p.Glu281Asp
ENST00000540368.6:n.874G>T
ENST00000613625.5:c.843G>T	ENSP00000482236.1:p.Glu281Asp
ENST00000674794.1:c.931G>T
ENST00000675344.1:c.843G>T	ENSP00000501953.1:p.Glu281Asp
ENST00000330342.7:c.843G>T	ENSP00000332247.2:p.Glu281Asp
ENST00000504192.2:c.453G>T	ENSP00000443441.1:p.Glu151Asp
ENST00000540368.5:n.1053G>T
ENST00000545059.5:n.3479G>T
ENST00000613625.4:c.843G>T	ENSP00000482236.1:p.Glu281Asp
NM_012463.3:c.843G>T	NP_036595.2:p.Glu281Asp
XM_005253563.1:c.843G>T	XP_005253620.1:p.Glu281Asp
XM_006719317.2:c.330G>T	XP_006719380.1:p.Glu110Asp
XM_006719318.2:c.21G>T	XP_006719381.1:p.Glu7Asp
XR_429088.1:n.1006G>T
XM_024448910.1:c.843G>T	XP_024304678.1:p.Glu281Asp
XM_024448911.1:c.330G>T	XP_024304679.1:p.Glu110Asp
XM_024448912.1:c.21G>T	XP_024304680.1:p.Glu7Asp
NM_012463.4:c.843G>T MANE Select	NP_036595.2:p.Glu281Asp