Canonical Allele Identifier: CA6861858

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 1613860
• ClinVar RCV Id: RCV002173595
• dbSNP Id: rs751710968
• ExAC: 12:124228451 T / C
• gnomAD v2: 12-124228451-T-C
• gnomAD v3: 12-123743904-T-C
• gnomAD v4: 12-123743904-T-C
• MyVariant Identifiers: chr12:g.124228451T>C (hg19) ; chr12:g.123743904T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743904T>C , CM000674.2:g.123743904T>C	GRCh38
NC_000012.11:g.124228451T>C , CM000674.1:g.124228451T>C	GRCh37
NC_000012.10:g.122794404T>C	NCBI36
NG_012743.1:g.36587T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1158T>C MANE Select	ENSP00000332247.2:p.Tyr386=
ENST00000540368.6:n.1189T>C
ENST00000674794.1:c.1246T>C
ENST00000675260.1:n.433T>C
ENST00000675344.1:c.*179T>C	ENSP00000501953.1:n.*179T>C
ENST00000330342.7:c.1158T>C	ENSP00000332247.2:p.Tyr386=
ENST00000504192.2:c.768T>C	ENSP00000443441.1:p.Tyr256=
ENST00000536426.1:n.175T>C
ENST00000545059.5:n.3794T>C
NM_012463.3:c.1158T>C	NP_036595.2:p.Tyr386=
XM_005253563.1:c.1158T>C	XP_005253620.1:p.Tyr386=
XM_006719317.2:c.645T>C	XP_006719380.1:p.Tyr215=
XM_006719318.2:c.336T>C	XP_006719381.1:p.Tyr112=
XR_429088.1:n.1321T>C
XM_024448910.1:c.1158T>C	XP_024304678.1:p.Tyr386=
XM_024448911.1:c.645T>C	XP_024304679.1:p.Tyr215=
XM_024448912.1:c.336T>C	XP_024304680.1:p.Tyr112=
NM_012463.4:c.1158T>C MANE Select	NP_036595.2:p.Tyr386=