Canonical Allele Identifier: CA6862089

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 307594
• ClinVar RCV Id: RCV000401678 ; RCV000865321 ; RCV001718625
• dbSNP Id: rs367950442
• ExAC: 12:124235735 T / C
• gnomAD v2: 12-124235735-T-C
• gnomAD v3: 12-123751188-T-C
• gnomAD v4: 12-123751188-T-C
• MyVariant Identifiers: chr12:g.124235735T>C (hg19) ; chr12:g.123751188T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123751188T>C , CM000674.2:g.123751188T>C	GRCh38
NC_000012.11:g.124235735T>C , CM000674.1:g.124235735T>C	GRCh37
NC_000012.10:g.122801688T>C	NCBI36
NG_012743.1:g.43871T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.2014T>C MANE Select	ENSP00000332247.2:p.Leu672=
ENST00000540368.6:n.2045T>C
ENST00000674794.1:c.2102T>C
ENST00000675260.1:n.1289T>C
ENST00000675344.1:c.*1035T>C	ENSP00000501953.1:n.*1035T>C
ENST00000330342.7:c.2014T>C	ENSP00000332247.2:p.Leu672=
ENST00000534943.5:c.-147T>C	ENSP00000443726.1:n.-147T>C
NM_012463.3:c.2014T>C	NP_036595.2:p.Leu672=
XM_005253563.1:c.1936-1095T>C	XP_005253620.1:n.1936-1095T>C
XM_006719317.2:c.1501T>C	XP_006719380.1:p.Leu501=
XM_006719318.2:c.1192T>C	XP_006719381.1:p.Leu398=
XR_429088.1:n.2177T>C
XM_024448910.1:c.1936-1095T>C	XP_024304678.1:n.1936-1095T>C
XM_024448911.1:c.1501T>C	XP_024304679.1:p.Leu501=
XM_024448912.1:c.1192T>C	XP_024304680.1:p.Leu398=
NM_012463.4:c.2014T>C MANE Select	NP_036595.2:p.Leu672=