Canonical Allele Identifier: CA2727238528

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs2135909562

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744203_123744221del , CM000674.2:g.123744203_123744221del	GRCh38
NC_000012.11:g.124228750_124228768del , CM000674.1:g.124228750_124228768del	GRCh37
NC_000012.10:g.122794703_122794721del	NCBI36
NG_012743.1:g.36886_36904del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1192_1210del MANE Select	ENSP00000332247.2:p.Leu398SerfsTer7
ENST00000540368.6:n.1223_1241del
ENST00000674794.1:c.1280_1298del
ENST00000675260.1:n.467_485del
ENST00000675344.1:c.*213_*231del	ENSP00000501953.1:n.*213_*231del
ENST00000330342.7:c.1192_1210del	ENSP00000332247.2:p.Leu398SerfsTer7
ENST00000504192.2:c.802_820del	ENSP00000443441.1:p.Leu268SerfsTer7
ENST00000536426.1:n.209_227del
ENST00000545059.5:n.3828_3846del
NM_012463.3:c.1192_1210del	NP_036595.2:p.Leu398SerfsTer7
XM_005253563.1:c.1192_1210del	XP_005253620.1:p.Leu398SerfsTer7
XM_006719317.2:c.679_697del	XP_006719380.1:p.Leu227SerfsTer7
XM_006719318.2:c.370_388del	XP_006719381.1:p.Leu124SerfsTer7
XR_429088.1:n.1355_1373del
XM_024448910.1:c.1192_1210del	XP_024304678.1:p.Leu398SerfsTer7
XM_024448911.1:c.679_697del	XP_024304679.1:p.Leu227SerfsTer7
XM_024448912.1:c.370_388del	XP_024304680.1:p.Leu124SerfsTer7
NM_012463.4:c.1192_1210del MANE Select	NP_036595.2:p.Leu398SerfsTer7