Canonical Allele Identifier: CA2621700822

Gene: ATP6V0A2

Linked Data

• gnomAD v4: 12-123744255-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744256del , CM000674.2:g.123744256del	GRCh38
NC_000012.11:g.124228803del , CM000674.1:g.124228803del	GRCh37
NC_000012.10:g.122794756del	NCBI36
NG_012743.1:g.36939del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1245del MANE Select	ENSP00000332247.2:p.Phe415LeufsTer6
ENST00000540368.6:n.1276del
ENST00000674794.1:c.1333del
ENST00000675260.1:n.520del
ENST00000675344.1:c.*266del	ENSP00000501953.1:n.*266del
ENST00000330342.7:c.1245del	ENSP00000332247.2:p.Phe415LeufsTer6
ENST00000504192.2:c.855del	ENSP00000443441.1:p.Phe285LeufsTer6
ENST00000536426.1:n.262del
ENST00000545059.5:n.3881del
NM_012463.3:c.1245del	NP_036595.2:p.Phe415LeufsTer6
XM_005253563.1:c.1245del	XP_005253620.1:p.Phe415LeufsTer6
XM_006719317.2:c.732del	XP_006719380.1:p.Phe244LeufsTer6
XM_006719318.2:c.423del	XP_006719381.1:p.Phe141LeufsTer6
XR_429088.1:n.1408del
XM_024448910.1:c.1245del	XP_024304678.1:p.Phe415LeufsTer6
XM_024448911.1:c.732del	XP_024304679.1:p.Phe244LeufsTer6
XM_024448912.1:c.423del	XP_024304680.1:p.Phe141LeufsTer6
NM_012463.4:c.1245del MANE Select	NP_036595.2:p.Phe415LeufsTer6