Canonical Allele Identifier: CA482270964

Gene: ATP6V0A2

Linked Data

• gnomAD v4: 12-123744280-A-G
• MyVariant Identifiers: chr12:g.124228827A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744280A>G , CM000674.2:g.123744280A>G	GRCh38
NC_000012.11:g.124228827A>G , CM000674.1:g.124228827A>G	GRCh37
NC_000012.10:g.122794780A>G	NCBI36
NG_012743.1:g.36963A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1269A>G MANE Select	ENSP00000332247.2:p.Leu423=
ENST00000540368.6:n.1300A>G
ENST00000674794.1:c.1357A>G
ENST00000675260.1:n.544A>G
ENST00000675344.1:c.*290A>G	ENSP00000501953.1:n.*290A>G
ENST00000330342.7:c.1269A>G	ENSP00000332247.2:p.Leu423=
ENST00000504192.2:c.879A>G	ENSP00000443441.1:p.Leu293=
ENST00000536426.1:n.286A>G
ENST00000545059.5:n.3905A>G
NM_012463.3:c.1269A>G	NP_036595.2:p.Leu423=
XM_005253563.1:c.1269A>G	XP_005253620.1:p.Leu423=
XM_006719317.2:c.756A>G	XP_006719380.1:p.Leu252=
XM_006719318.2:c.447A>G	XP_006719381.1:p.Leu149=
XR_429088.1:n.1432A>G
XM_024448910.1:c.1269A>G	XP_024304678.1:p.Leu423=
XM_024448911.1:c.756A>G	XP_024304679.1:p.Leu252=
XM_024448912.1:c.447A>G	XP_024304680.1:p.Leu149=
NM_012463.4:c.1269A>G MANE Select	NP_036595.2:p.Leu423=