Canonical Allele Identifier: CA2069004626

Gene: ATP6V0A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744305_123744306delinsGA , CM000674.2:g.123744305_123744306delinsGA	GRCh38
NC_000012.11:g.124228852_124228853delinsGA , CM000674.1:g.124228852_124228853delinsGA	GRCh37
NC_000012.10:g.122794805_122794806delinsGA	NCBI36
NG_012743.1:g.36988_36989delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1294_1295delinsGA MANE Select	ENSP00000332247.2:p.Glu432=
ENST00000540368.6:n.1325_1326delinsGA
ENST00000674794.1:c.1382_1383delinsGA
ENST00000675260.1:n.569_570delinsGA
ENST00000675344.1:c.*315_*316delinsGA	ENSP00000501953.1:n.*315_*316delinsGA
ENST00000330342.7:c.1294_1295delinsGA	ENSP00000332247.2:p.Glu432=
ENST00000504192.2:c.904_905delinsGA	ENSP00000443441.1:p.Glu302=
ENST00000536426.1:n.311_312delinsGA
ENST00000545059.5:n.3930_3931delinsGA
NM_012463.3:c.1294_1295delinsGA	NP_036595.2:p.Glu432=
XM_005253563.1:c.1294_1295delinsGA	XP_005253620.1:p.Glu432=
XM_006719317.2:c.781_782delinsGA	XP_006719380.1:p.Glu261=
XM_006719318.2:c.472_473delinsGA	XP_006719381.1:p.Glu158=
XR_429088.1:n.1457_1458delinsGA
XM_024448910.1:c.1294_1295delinsGA	XP_024304678.1:p.Glu432=
XM_024448911.1:c.781_782delinsGA	XP_024304679.1:p.Glu261=
XM_024448912.1:c.472_473delinsGA	XP_024304680.1:p.Glu158=
NM_012463.4:c.1294_1295delinsGA MANE Select	NP_036595.2:p.Glu432=