Canonical Allele Identifier: CA387157594

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 2220306
• ClinVar RCV Id: RCV002673034
• dbSNP Id: rs1566287308
• gnomAD v4: 12-123744673-A-G
• MyVariant Identifiers: chr12:g.124229220A>G (hg19) ; chr12:g.123744673A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744673A>G , CM000674.2:g.123744673A>G	GRCh38
NC_000012.11:g.124229220A>G , CM000674.1:g.124229220A>G	GRCh37
NC_000012.10:g.122795173A>G	NCBI36
NG_012743.1:g.37356A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1403A>G MANE Select	ENSP00000332247.2:p.Tyr468Cys
ENST00000540368.6:n.1434A>G
ENST00000674794.1:c.1491A>G
ENST00000675260.1:n.678A>G
ENST00000675344.1:c.*424A>G	ENSP00000501953.1:n.*424A>G
ENST00000330342.7:c.1403A>G	ENSP00000332247.2:p.Tyr468Cys
ENST00000536426.1:n.420A>G
ENST00000545059.5:n.4039A>G
NM_012463.3:c.1403A>G	NP_036595.2:p.Tyr468Cys
XM_005253563.1:c.1403A>G	XP_005253620.1:p.Tyr468Cys
XM_006719317.2:c.890A>G	XP_006719380.1:p.Tyr297Cys
XM_006719318.2:c.581A>G	XP_006719381.1:p.Tyr194Cys
XR_429088.1:n.1566A>G
XM_024448910.1:c.1403A>G	XP_024304678.1:p.Tyr468Cys
XM_024448911.1:c.890A>G	XP_024304679.1:p.Tyr297Cys
XM_024448912.1:c.581A>G	XP_024304680.1:p.Tyr194Cys
NM_012463.4:c.1403A>G MANE Select	NP_036595.2:p.Tyr468Cys