Canonical Allele Identifier: CA387156670

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs1363341385
• gnomAD v2: 12-124228835-T-C
• gnomAD v3: 12-123744288-T-C
• gnomAD v4: 12-123744288-T-C
• MyVariant Identifiers: chr12:g.124228835T>C (hg19) ; chr12:g.123744288T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744288T>C , CM000674.2:g.123744288T>C	GRCh38
NC_000012.11:g.124228835T>C , CM000674.1:g.124228835T>C	GRCh37
NC_000012.10:g.122794788T>C	NCBI36
NG_012743.1:g.36971T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1277T>C MANE Select	ENSP00000332247.2:p.Leu426Pro
ENST00000540368.6:n.1308T>C
ENST00000674794.1:c.1365T>C
ENST00000675260.1:n.552T>C
ENST00000675344.1:c.*298T>C	ENSP00000501953.1:n.*298T>C
ENST00000330342.7:c.1277T>C	ENSP00000332247.2:p.Leu426Pro
ENST00000504192.2:c.887T>C	ENSP00000443441.1:p.Leu296Pro
ENST00000536426.1:n.294T>C
ENST00000545059.5:n.3913T>C
NM_012463.3:c.1277T>C	NP_036595.2:p.Leu426Pro
XM_005253563.1:c.1277T>C	XP_005253620.1:p.Leu426Pro
XM_006719317.2:c.764T>C	XP_006719380.1:p.Leu255Pro
XM_006719318.2:c.455T>C	XP_006719381.1:p.Leu152Pro
XR_429088.1:n.1440T>C
XM_024448910.1:c.1277T>C	XP_024304678.1:p.Leu426Pro
XM_024448911.1:c.764T>C	XP_024304679.1:p.Leu255Pro
XM_024448912.1:c.455T>C	XP_024304680.1:p.Leu152Pro
NM_012463.4:c.1277T>C MANE Select	NP_036595.2:p.Leu426Pro