Canonical Allele Identifier: CA387161584

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123748776C>A , CM000674.2:g.123748776C>A	GRCh38
NC_000012.11:g.124233323C>A , CM000674.1:g.124233323C>A	GRCh37
NC_000012.10:g.122799276C>A	NCBI36
NG_012743.1:g.41459C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012463.4:c.1926C>A MANE Select	NP_036595.2:p.Tyr642Ter
ENST00000330342.8:c.1926C>A MANE Select	ENSP00000332247.2:p.Tyr642Ter
NM_012463.3:c.1926C>A	NP_036595.2:p.Tyr642Ter
ENST00000330342.7:c.1926C>A	ENSP00000332247.2:p.Tyr642Ter
ENST00000540368.6:n.1957C>A
ENST00000674794.1:c.2014C>A
ENST00000675260.1:n.1201C>A
ENST00000675344.1:c.*947C>A	ENSP00000501953.1:n.*947C>A
XM_005253563.1:c.1926C>A	XP_005253620.1:p.Tyr642Ter
XM_006719317.2:c.1413C>A	XP_006719380.1:p.Tyr471Ter
XM_006719318.2:c.1104C>A	XP_006719381.1:p.Tyr368Ter
XM_024448910.1:c.1926C>A	XP_024304678.1:p.Tyr642Ter
XM_024448911.1:c.1413C>A	XP_024304679.1:p.Tyr471Ter
XM_024448912.1:c.1104C>A	XP_024304680.1:p.Tyr368Ter
XR_429088.1:n.2089C>A