Canonical Allele Identifier: CA241054

Gene: ATP6V0A2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123754473T>C , CM000674.2:g.123754473T>C	GRCh38
NC_000012.11:g.124239020T>C , CM000674.1:g.124239020T>C	GRCh37
NC_000012.10:g.122804973T>C	NCBI36
NG_012743.1:g.47156T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.2229T>C MANE Select	ENSP00000332247.2:p.Cys743=
ENST00000540368.6:n.2260T>C
ENST00000674794.1:c.2317T>C
ENST00000675344.1:c.*1250T>C	ENSP00000501953.1:n.*1250T>C
ENST00000330342.7:c.2229T>C	ENSP00000332247.2:p.Cys743=
ENST00000534943.5:c.69T>C	ENSP00000443726.1:p.Cys23=
ENST00000544833.1:c.75T>C	ENSP00000441143.1:p.Cys25=
NM_012463.3:c.2229T>C	NP_036595.2:p.Cys743=
XM_005253563.1:c.2109T>C	XP_005253620.1:p.Cys703=
XM_006719317.2:c.1716T>C	XP_006719380.1:p.Cys572=
XM_006719318.2:c.1407T>C	XP_006719381.1:p.Cys469=
XR_429088.1:n.2392T>C
XM_024448910.1:c.2109T>C	XP_024304678.1:p.Cys703=
XM_024448911.1:c.1716T>C	XP_024304679.1:p.Cys572=
XM_024448912.1:c.1407T>C	XP_024304680.1:p.Cys469=
NM_012463.4:c.2229T>C MANE Select	NP_036595.2:p.Cys743=