Canonical Allele Identifier: CA684686605

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs1487247127
• gnomAD v4: 12-123744083-C-G
• MyVariant Identifiers: chr12:g.124228630C>G (hg19) ; chr12:g.123744083C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744083C>G , CM000674.2:g.123744083C>G	GRCh38
NC_000012.11:g.124228630C>G , CM000674.1:g.124228630C>G	GRCh37
NC_000012.10:g.122794583C>G	NCBI36
NG_012743.1:g.36766C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000330342.8:c.1190-118C>G MANE Select	ENSP00000332247.2:n.1190-118C>G
ENST00000540368.6:n.1221-118C>G
ENST00000674794.1:c.1278-118C>G
ENST00000675260.1:n.465-118C>G
ENST00000675344.1:c.*211-118C>G	ENSP00000501953.1:n.*211-118C>G
ENST00000330342.7:c.1190-118C>G	ENSP00000332247.2:n.1190-118C>G
ENST00000504192.2:c.800-118C>G	ENSP00000443441.1:n.800-118C>G
ENST00000536426.1:n.207-118C>G
ENST00000545059.5:n.3826-118C>G
NM_012463.3:c.1190-118C>G	NP_036595.2:n.1190-118C>G
XM_005253563.1:c.1190-118C>G	XP_005253620.1:n.1190-118C>G
XM_006719317.2:c.677-118C>G	XP_006719380.1:n.677-118C>G
XM_006719318.2:c.368-118C>G	XP_006719381.1:n.368-118C>G
XR_429088.1:n.1353-118C>G
XM_024448910.1:c.1190-118C>G	XP_024304678.1:n.1190-118C>G
XM_024448911.1:c.677-118C>G	XP_024304679.1:n.677-118C>G
XM_024448912.1:c.368-118C>G	XP_024304680.1:n.368-118C>G
NM_012463.4:c.1190-118C>G MANE Select	NP_036595.2:n.1190-118C>G