Canonical Allele Identifier: CA245200282

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 2740713
• ClinVar RCV Id: RCV003502171
• dbSNP Id: rs372852652
• gnomAD v4: 12-123743935-G-C
• MyVariant Identifiers: chr12:g.124228482G>C (hg19) ; chr12:g.123743935G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743935G>C , CM000674.2:g.123743935G>C	GRCh38
NC_000012.11:g.124228482G>C , CM000674.1:g.124228482G>C	GRCh37
NC_000012.10:g.122794435G>C	NCBI36
NG_012743.1:g.36618G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1189G>C MANE Select	ENSP00000332247.2:p.Ala397Pro
ENST00000540368.6:n.1220G>C
ENST00000674794.1:c.1277G>C
ENST00000675260.1:n.464G>C
ENST00000675344.1:c.*210G>C	ENSP00000501953.1:n.*210G>C
ENST00000330342.7:c.1189G>C	ENSP00000332247.2:p.Ala397Pro
ENST00000504192.2:c.799G>C	ENSP00000443441.1:p.Ala267Pro
ENST00000536426.1:n.206G>C
ENST00000545059.5:n.3825G>C
NM_012463.3:c.1189G>C	NP_036595.2:p.Ala397Pro
XM_005253563.1:c.1189G>C	XP_005253620.1:p.Ala397Pro
XM_006719317.2:c.676G>C	XP_006719380.1:p.Ala226Pro
XM_006719318.2:c.367G>C	XP_006719381.1:p.Ala123Pro
XR_429088.1:n.1352G>C
XM_024448910.1:c.1189G>C	XP_024304678.1:p.Ala397Pro
XM_024448911.1:c.676G>C	XP_024304679.1:p.Ala226Pro
XM_024448912.1:c.367G>C	XP_024304680.1:p.Ala123Pro
NM_012463.4:c.1189G>C MANE Select	NP_036595.2:p.Ala397Pro