Canonical Allele Identifier: CA387156046

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123754447C>T , CM000674.2:g.123754447C>T	GRCh38
NC_000012.11:g.124238994C>T , CM000674.1:g.124238994C>T	GRCh37
NC_000012.10:g.122804947C>T	NCBI36
NG_012743.1:g.47130C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012463.4:c.2203C>T MANE Select	NP_036595.2:p.Gln735Ter
ENST00000330342.8:c.2203C>T MANE Select	ENSP00000332247.2:p.Gln735Ter
NM_012463.3:c.2203C>T	NP_036595.2:p.Gln735Ter
ENST00000330342.7:c.2203C>T	ENSP00000332247.2:p.Gln735Ter
ENST00000534943.5:c.43C>T	ENSP00000443726.1:p.Gln15Ter
ENST00000540368.6:n.2234C>T
ENST00000544833.1:c.49C>T	ENSP00000441143.1:p.Gln17Ter
ENST00000674794.1:c.2291C>T
ENST00000675344.1:c.*1224C>T	ENSP00000501953.1:n.*1224C>T
XM_005253563.1:c.2083C>T	XP_005253620.1:p.Gln695Ter
XM_006719317.2:c.1690C>T	XP_006719380.1:p.Gln564Ter
XM_006719318.2:c.1381C>T	XP_006719381.1:p.Gln461Ter
XM_024448910.1:c.2083C>T	XP_024304678.1:p.Gln695Ter
XM_024448911.1:c.1690C>T	XP_024304679.1:p.Gln564Ter
XM_024448912.1:c.1381C>T	XP_024304680.1:p.Gln461Ter
XR_429088.1:n.2366C>T