Canonical Allele Identifier: CA10640510

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 307625
• ClinVar RCV Id: RCV000377536
• dbSNP Id: rs772714418
• gnomAD v2: 12-124244761-CTCTT-C
• gnomAD v3: 12-123760214-CTCTT-C
• gnomAD v4: 12-123760214-CTCTT-C
• MyVariant Identifiers: chr12:g.124244765_124244768del (hg19) ; chr12:g.124244762_124244765del (hg19) ; chr12:g.123760218_123760221del (hg38) ; chr12:g.123760215_123760218del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123760218_123760221del , CM000674.2:g.123760218_123760221del	GRCh38
NC_000012.11:g.124244765_124244768del , CM000674.1:g.124244765_124244768del	GRCh37
NC_000012.10:g.122810718_122810721del	NCBI36
NG_012743.1:g.52901_52904del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.*2186_*2189del MANE Select	ENSP00000332247.2:n.*2186_*2189del
ENST00000330342.7:c.*2186_*2189del	ENSP00000332247.2:n.*2186_*2189del
NM_012463.3:c.*2186_*2189del	NP_036595.2:n.*2186_*2189del
XM_005253563.1:c.*2186_*2189del	XP_005253620.1:n.*2186_*2189del
XM_006719317.2:c.*2186_*2189del	XP_006719380.1:n.*2186_*2189del
XM_006719318.2:c.*2186_*2189del	XP_006719381.1:n.*2186_*2189del
XR_429088.1:n.4862_4865del
XM_024448910.1:c.*2186_*2189del	XP_024304678.1:n.*2186_*2189del
NM_012463.4:c.*2186_*2189del MANE Select	NP_036595.2:n.*2186_*2189del