Canonical Allele Identifier: CA6861465

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 286400
• ClinVar RCV Id: RCV000599054 ; RCV000689436 ; RCV002265727
• dbSNP Id: rs745590426
• ExAC: 12:124197189 T / TC
• gnomAD v2: 12-124197189-T-TC
• gnomAD v3: 12-123712642-T-TC
• gnomAD v4: 12-123712642-T-TC
• MyVariant Identifiers: chr12:g.124197190dupC (hg19) ; chr12:g.124197189_124197190insC (hg19) ; chr12:g.123712643dupC (hg38) ; chr12:g.123712642_123712643insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123712643dup , CM000674.2:g.123712643dup	GRCh38
NC_000012.11:g.124197190dup , CM000674.1:g.124197190dup	GRCh37
NC_000012.10:g.122763143dup	NCBI36
NG_012743.1:g.5326dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.78dup MANE Select	ENSP00000332247.2:p.Ser27GlnfsTer28
ENST00000540368.6:n.109dup
ENST00000613625.5:c.78dup	ENSP00000482236.1:p.Ser27GlnfsTer28
ENST00000675344.1:c.78dup	ENSP00000501953.1:p.Ser27GlnfsTer28
ENST00000676034.1:n.61dup
ENST00000330342.7:c.78dup	ENSP00000332247.2:p.Ser27GlnfsTer28
ENST00000540368.5:n.288dup
ENST00000613625.4:c.78dup	ENSP00000482236.1:p.Ser27GlnfsTer28
NM_012463.3:c.78dup	NP_036595.2:p.Ser27GlnfsTer28
XM_005253563.1:c.78dup	XP_005253620.1:p.Ser27GlnfsTer28
XR_429088.1:n.241dup
XM_024448910.1:c.78dup	XP_024304678.1:p.Ser27GlnfsTer28
NM_012463.4:c.78dup MANE Select	NP_036595.2:p.Ser27GlnfsTer28