Canonical Allele Identifier: CA245200354

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 1174292
• ClinVar RCV Id: RCV001527866
• dbSNP Id: rs77220701
• gnomAD v2: 12-124228625-C-T
• gnomAD v3: 12-123744078-C-T
• gnomAD v4: 12-123744078-C-T
• MyVariant Identifiers: chr12:g.124228625C>T (hg19) ; chr12:g.123744078C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744078C>T , CM000674.2:g.123744078C>T	GRCh38
NC_000012.11:g.124228625C>T , CM000674.1:g.124228625C>T	GRCh37
NC_000012.10:g.122794578C>T	NCBI36
NG_012743.1:g.36761C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000330342.8:c.1190-123C>T MANE Select	ENSP00000332247.2:n.1190-123C>T
ENST00000540368.6:n.1221-123C>T
ENST00000674794.1:c.1278-123C>T
ENST00000675260.1:n.465-123C>T
ENST00000675344.1:c.*211-123C>T	ENSP00000501953.1:n.*211-123C>T
ENST00000330342.7:c.1190-123C>T	ENSP00000332247.2:n.1190-123C>T
ENST00000504192.2:c.800-123C>T	ENSP00000443441.1:n.800-123C>T
ENST00000536426.1:n.207-123C>T
ENST00000545059.5:n.3826-123C>T
NM_012463.3:c.1190-123C>T	NP_036595.2:n.1190-123C>T
XM_005253563.1:c.1190-123C>T	XP_005253620.1:n.1190-123C>T
XM_006719317.2:c.677-123C>T	XP_006719380.1:n.677-123C>T
XM_006719318.2:c.368-123C>T	XP_006719381.1:n.368-123C>T
XR_429088.1:n.1353-123C>T
XM_024448910.1:c.1190-123C>T	XP_024304678.1:n.1190-123C>T
XM_024448911.1:c.677-123C>T	XP_024304679.1:n.677-123C>T
XM_024448912.1:c.368-123C>T	XP_024304680.1:n.368-123C>T
NM_012463.4:c.1190-123C>T MANE Select	NP_036595.2:n.1190-123C>T