Canonical Allele Identifier: CA6861826

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs775120211
• ExAC: 12:124228326 T / G
• gnomAD v2: 12-124228326-T-G
• MyVariant Identifiers: chr12:g.124228326T>G (hg19) ; chr12:g.123743779T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743779T>G , CM000674.2:g.123743779T>G	GRCh38
NC_000012.11:g.124228326T>G , CM000674.1:g.124228326T>G	GRCh37
NC_000012.10:g.122794279T>G	NCBI36
NG_012743.1:g.36462T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1039-6T>G MANE Select	ENSP00000332247.2:n.1039-6T>G
ENST00000540368.6:n.1070-6T>G
ENST00000674794.1:c.1127-6T>G
ENST00000675260.1:n.308T>G
ENST00000675344.1:c.*60-6T>G	ENSP00000501953.1:n.*60-6T>G
ENST00000330342.7:c.1039-6T>G	ENSP00000332247.2:n.1039-6T>G
ENST00000504192.2:c.649-6T>G	ENSP00000443441.1:n.649-6T>G
ENST00000536426.1:n.56-6T>G
ENST00000545059.5:n.3675-6T>G
NM_012463.3:c.1039-6T>G	NP_036595.2:n.1039-6T>G
XM_005253563.1:c.1039-6T>G	XP_005253620.1:n.1039-6T>G
XM_006719317.2:c.526-6T>G	XP_006719380.1:n.526-6T>G
XM_006719318.2:c.217-6T>G	XP_006719381.1:n.217-6T>G
XR_429088.1:n.1202-6T>G
XM_024448910.1:c.1039-6T>G	XP_024304678.1:n.1039-6T>G
XM_024448911.1:c.526-6T>G	XP_024304679.1:n.526-6T>G
XM_024448912.1:c.217-6T>G	XP_024304680.1:n.217-6T>G
NM_012463.4:c.1039-6T>G MANE Select	NP_036595.2:n.1039-6T>G