Canonical Allele Identifier: CA245200120

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs564064332
• gnomAD v3: 12-123743719-G-A
• gnomAD v4: 12-123743719-G-A
• MyVariant Identifiers: chr12:g.124228266G>A (hg19) ; chr12:g.123743719G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743719G>A , CM000674.2:g.123743719G>A	GRCh38
NC_000012.11:g.124228266G>A , CM000674.1:g.124228266G>A	GRCh37
NC_000012.10:g.122794219G>A	NCBI36
NG_012743.1:g.36402G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000330342.8:c.1039-66G>A MANE Select	ENSP00000332247.2:n.1039-66G>A
ENST00000540368.6:n.1070-66G>A
ENST00000674794.1:c.1127-66G>A
ENST00000675260.1:n.248G>A
ENST00000675344.1:c.*60-66G>A	ENSP00000501953.1:n.*60-66G>A
ENST00000330342.7:c.1039-66G>A	ENSP00000332247.2:n.1039-66G>A
ENST00000504192.2:c.649-66G>A	ENSP00000443441.1:n.649-66G>A
ENST00000536426.1:n.56-66G>A
ENST00000545059.5:n.3675-66G>A
NM_012463.3:c.1039-66G>A	NP_036595.2:n.1039-66G>A
XM_005253563.1:c.1039-66G>A	XP_005253620.1:n.1039-66G>A
XM_006719317.2:c.526-66G>A	XP_006719380.1:n.526-66G>A
XM_006719318.2:c.217-66G>A	XP_006719381.1:n.217-66G>A
XR_429088.1:n.1202-66G>A
XM_024448910.1:c.1039-66G>A	XP_024304678.1:n.1039-66G>A
XM_024448911.1:c.526-66G>A	XP_024304679.1:n.526-66G>A
XM_024448912.1:c.217-66G>A	XP_024304680.1:n.217-66G>A
NM_012463.4:c.1039-66G>A MANE Select	NP_036595.2:n.1039-66G>A