Canonical Allele Identifier: CA245204083

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 2186895
• ClinVar RCV Id: RCV002611185
• dbSNP Id: rs1048939998
• gnomAD v2: 12-124235662-T-C
• gnomAD v3: 12-123751115-T-C
• gnomAD v4: 12-123751115-T-C
• MyVariant Identifiers: chr12:g.124235662T>C (hg19) ; chr12:g.123751115T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123751115T>C , CM000674.2:g.123751115T>C	GRCh38
NC_000012.11:g.124235662T>C , CM000674.1:g.124235662T>C	GRCh37
NC_000012.10:g.122801615T>C	NCBI36
NG_012743.1:g.43798T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000330342.8:c.1941T>C MANE Select	ENSP00000332247.2:p.Tyr647=
ENST00000540368.6:n.1972T>C
ENST00000674794.1:c.2029T>C
ENST00000675260.1:n.1216T>C
ENST00000675344.1:c.*962T>C	ENSP00000501953.1:n.*962T>C
ENST00000330342.7:c.1941T>C	ENSP00000332247.2:p.Tyr647=
ENST00000534943.5:c.-220T>C	ENSP00000443726.1:n.-220T>C
NM_012463.3:c.1941T>C	NP_036595.2:p.Tyr647=
XM_005253563.1:c.1936-1168T>C	XP_005253620.1:n.1936-1168T>C
XM_006719317.2:c.1428T>C	XP_006719380.1:p.Tyr476=
XM_006719318.2:c.1119T>C	XP_006719381.1:p.Tyr373=
XR_429088.1:n.2104T>C
XM_024448910.1:c.1936-1168T>C	XP_024304678.1:n.1936-1168T>C
XM_024448911.1:c.1428T>C	XP_024304679.1:p.Tyr476=
XM_024448912.1:c.1119T>C	XP_024304680.1:p.Tyr373=
NM_012463.4:c.1941T>C MANE Select	NP_036595.2:p.Tyr647=