Canonical Allele Identifier: CA10632207

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 307574
• ClinVar RCV Id: RCV000325607 ; RCV001111204
• dbSNP Id: rs540324717
• gnomAD v2: 12-124196943-C-A
• gnomAD v3: 12-123712396-C-A
• gnomAD v4: 12-123712396-C-A
• MyVariant Identifiers: chr12:g.124196943C>A (hg19) ; chr12:g.123712396C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123712396C>A , CM000674.2:g.123712396C>A	GRCh38
NC_000012.11:g.124196943C>A , CM000674.1:g.124196943C>A	GRCh37
NC_000012.10:g.122762896C>A	NCBI36
NG_012743.1:g.5079C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.-170C>A MANE Select	ENSP00000332247.2:n.-170C>A
ENST00000613625.5:c.-170C>A	ENSP00000482236.1:n.-170C>A
ENST00000330342.7:c.-170C>A	ENSP00000332247.2:n.-170C>A
ENST00000540368.5:n.41C>A
ENST00000613625.4:c.-170C>A	ENSP00000482236.1:n.-170C>A
NM_012463.3:c.-170C>A	NP_036595.2:n.-170C>A
NM_012463.4:c.-170C>A MANE Select	NP_036595.2:n.-170C>A