Canonical Allele Identifier: CA387156147

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123754467G>C , CM000674.2:g.123754467G>C	GRCh38
NC_000012.11:g.124239014G>C , CM000674.1:g.124239014G>C	GRCh37
NC_000012.10:g.122804967G>C	NCBI36
NG_012743.1:g.47150G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.2223G>C MANE Select	ENSP00000332247.2:p.Glu741Asp
ENST00000540368.6:n.2254G>C
ENST00000674794.1:c.2311G>C
ENST00000675344.1:c.*1244G>C	ENSP00000501953.1:n.*1244G>C
ENST00000330342.7:c.2223G>C	ENSP00000332247.2:p.Glu741Asp
ENST00000534943.5:c.63G>C	ENSP00000443726.1:p.Glu21Asp
ENST00000544833.1:c.69G>C	ENSP00000441143.1:p.Glu23Asp
NM_012463.3:c.2223G>C	NP_036595.2:p.Glu741Asp
XM_005253563.1:c.2103G>C	XP_005253620.1:p.Glu701Asp
XM_006719317.2:c.1710G>C	XP_006719380.1:p.Glu570Asp
XM_006719318.2:c.1401G>C	XP_006719381.1:p.Glu467Asp
XR_429088.1:n.2386G>C
XM_024448910.1:c.2103G>C	XP_024304678.1:p.Glu701Asp
XM_024448911.1:c.1710G>C	XP_024304679.1:p.Glu570Asp
XM_024448912.1:c.1401G>C	XP_024304680.1:p.Glu467Asp
NM_012463.4:c.2223G>C MANE Select	NP_036595.2:p.Glu741Asp