Canonical Allele Identifier: CA684686251

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs1217761470
• MyVariant Identifiers: chr12:g.124228296_124228301del (hg19) ; chr12:g.123743749_123743754del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743751_123743756del , CM000674.2:g.123743751_123743756del	GRCh38
NC_000012.11:g.124228298_124228303del , CM000674.1:g.124228298_124228303del	GRCh37
NC_000012.10:g.122794251_122794256del	NCBI36
NG_012743.1:g.36434_36439del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1039-34_1039-29del MANE Select	ENSP00000332247.2:n.1039-34_1039-29del
ENST00000540368.6:n.1070-34_1070-29del
ENST00000674794.1:c.1127-34_1127-29del
ENST00000675260.1:n.280_285del
ENST00000675344.1:c.*60-34_*60-29del	ENSP00000501953.1:n.*60-34_*60-29del
ENST00000330342.7:c.1039-34_1039-29del	ENSP00000332247.2:n.1039-34_1039-29del
ENST00000504192.2:c.649-34_649-29del	ENSP00000443441.1:n.649-34_649-29del
ENST00000536426.1:n.56-34_56-29del
ENST00000545059.5:n.3675-34_3675-29del
NM_012463.3:c.1039-34_1039-29del	NP_036595.2:n.1039-34_1039-29del
XM_005253563.1:c.1039-34_1039-29del	XP_005253620.1:n.1039-34_1039-29del
XM_006719317.2:c.526-34_526-29del	XP_006719380.1:n.526-34_526-29del
XM_006719318.2:c.217-34_217-29del	XP_006719381.1:n.217-34_217-29del
XR_429088.1:n.1202-34_1202-29del
XM_024448910.1:c.1039-34_1039-29del	XP_024304678.1:n.1039-34_1039-29del
XM_024448911.1:c.526-34_526-29del	XP_024304679.1:n.526-34_526-29del
XM_024448912.1:c.217-34_217-29del	XP_024304680.1:n.217-34_217-29del
NM_012463.4:c.1039-34_1039-29del MANE Select	NP_036595.2:n.1039-34_1039-29del