Canonical Allele Identifier: CA2621700655

Gene: ATP6V0A2

Linked Data

• gnomAD v4: 12-123743727-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743727T>C , CM000674.2:g.123743727T>C	GRCh38
NC_000012.11:g.124228274T>C , CM000674.1:g.124228274T>C	GRCh37
NC_000012.10:g.122794227T>C	NCBI36
NG_012743.1:g.36410T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000330342.8:c.1039-58T>C MANE Select	ENSP00000332247.2:n.1039-58T>C
ENST00000540368.6:n.1070-58T>C
ENST00000674794.1:c.1127-58T>C
ENST00000675260.1:n.256T>C
ENST00000675344.1:c.*60-58T>C	ENSP00000501953.1:n.*60-58T>C
ENST00000330342.7:c.1039-58T>C	ENSP00000332247.2:n.1039-58T>C
ENST00000504192.2:c.649-58T>C	ENSP00000443441.1:n.649-58T>C
ENST00000536426.1:n.56-58T>C
ENST00000545059.5:n.3675-58T>C
NM_012463.3:c.1039-58T>C	NP_036595.2:n.1039-58T>C
XM_005253563.1:c.1039-58T>C	XP_005253620.1:n.1039-58T>C
XM_006719317.2:c.526-58T>C	XP_006719380.1:n.526-58T>C
XM_006719318.2:c.217-58T>C	XP_006719381.1:n.217-58T>C
XR_429088.1:n.1202-58T>C
XM_024448910.1:c.1039-58T>C	XP_024304678.1:n.1039-58T>C
XM_024448911.1:c.526-58T>C	XP_024304679.1:n.526-58T>C
XM_024448912.1:c.217-58T>C	XP_024304680.1:n.217-58T>C
NM_012463.4:c.1039-58T>C MANE Select	NP_036595.2:n.1039-58T>C