Canonical Allele Identifier: CA387157363

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 1307521
• ClinVar RCV Id: RCV001760939
• dbSNP Id: rs1956641918
• gnomAD v4: 12-123744625-A-C
• MyVariant Identifiers: chr12:g.124229172A>C (hg19) ; chr12:g.123744625A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744625A>C , CM000674.2:g.123744625A>C	GRCh38
NC_000012.11:g.124229172A>C , CM000674.1:g.124229172A>C	GRCh37
NC_000012.10:g.122795125A>C	NCBI36
NG_012743.1:g.37308A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1355A>C MANE Select	ENSP00000332247.2:p.Tyr452Ser
ENST00000540368.6:n.1386A>C
ENST00000674794.1:c.1443A>C
ENST00000675260.1:n.630A>C
ENST00000675344.1:c.*376A>C	ENSP00000501953.1:n.*376A>C
ENST00000330342.7:c.1355A>C	ENSP00000332247.2:p.Tyr452Ser
ENST00000504192.2:c.965A>C	ENSP00000443441.1:p.Tyr322Ser
ENST00000536426.1:n.372A>C
ENST00000545059.5:n.3991A>C
NM_012463.3:c.1355A>C	NP_036595.2:p.Tyr452Ser
XM_005253563.1:c.1355A>C	XP_005253620.1:p.Tyr452Ser
XM_006719317.2:c.842A>C	XP_006719380.1:p.Tyr281Ser
XM_006719318.2:c.533A>C	XP_006719381.1:p.Tyr178Ser
XR_429088.1:n.1518A>C
XM_024448910.1:c.1355A>C	XP_024304678.1:p.Tyr452Ser
XM_024448911.1:c.842A>C	XP_024304679.1:p.Tyr281Ser
XM_024448912.1:c.533A>C	XP_024304680.1:p.Tyr178Ser
NM_012463.4:c.1355A>C MANE Select	NP_036595.2:p.Tyr452Ser