Canonical Allele Identifier: CA6861921

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs765851941
• ExAC: 12:124229215 C / T
• gnomAD v2: 12-124229215-C-T
• gnomAD v4: 12-123744668-C-T
• COSMIC: COSM5441205
• MyVariant Identifiers: chr12:g.124229215C>T (hg19) ; chr12:g.123744668C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744668C>T , CM000674.2:g.123744668C>T	GRCh38
NC_000012.11:g.124229215C>T , CM000674.1:g.124229215C>T	GRCh37
NC_000012.10:g.122795168C>T	NCBI36
NG_012743.1:g.37351C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1398C>T MANE Select	ENSP00000332247.2:p.Leu466=
ENST00000540368.6:n.1429C>T
ENST00000674794.1:c.1486C>T
ENST00000675260.1:n.673C>T
ENST00000675344.1:c.*419C>T	ENSP00000501953.1:n.*419C>T
ENST00000330342.7:c.1398C>T	ENSP00000332247.2:p.Leu466=
ENST00000536426.1:n.415C>T
ENST00000545059.5:n.4034C>T
NM_012463.3:c.1398C>T	NP_036595.2:p.Leu466=
XM_005253563.1:c.1398C>T	XP_005253620.1:p.Leu466=
XM_006719317.2:c.885C>T	XP_006719380.1:p.Leu295=
XM_006719318.2:c.576C>T	XP_006719381.1:p.Leu192=
XR_429088.1:n.1561C>T
XM_024448910.1:c.1398C>T	XP_024304678.1:p.Leu466=
XM_024448911.1:c.885C>T	XP_024304679.1:p.Leu295=
XM_024448912.1:c.576C>T	XP_024304680.1:p.Leu192=
NM_012463.4:c.1398C>T MANE Select	NP_036595.2:p.Leu466=