Canonical Allele Identifier: CA387162806

Gene: ATP6V0A2

Linked Data

• gnomAD v4: 12-123751110-G-A
• MyVariant Identifiers: chr12:g.124235657G>A (hg19) ; chr12:g.123751110G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123751110G>A , CM000674.2:g.123751110G>A	GRCh38
NC_000012.11:g.124235657G>A , CM000674.1:g.124235657G>A	GRCh37
NC_000012.10:g.122801610G>A	NCBI36
NG_012743.1:g.43793G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000330342.8:c.1936G>A MANE Select	ENSP00000332247.2:p.Glu646Lys
ENST00000540368.6:n.1967G>A
ENST00000674794.1:c.2024G>A
ENST00000675260.1:n.1211G>A
ENST00000675344.1:c.*957G>A	ENSP00000501953.1:n.*957G>A
ENST00000330342.7:c.1936G>A	ENSP00000332247.2:p.Glu646Lys
ENST00000534943.5:c.-225G>A	ENSP00000443726.1:n.-225G>A
NM_012463.3:c.1936G>A	NP_036595.2:p.Glu646Lys
XM_005253563.1:c.1936-1173G>A	XP_005253620.1:n.1936-1173G>A
XM_006719317.2:c.1423G>A	XP_006719380.1:p.Glu475Lys
XM_006719318.2:c.1114G>A	XP_006719381.1:p.Glu372Lys
XR_429088.1:n.2099G>A
XM_024448910.1:c.1936-1173G>A	XP_024304678.1:n.1936-1173G>A
XM_024448911.1:c.1423G>A	XP_024304679.1:p.Glu475Lys
XM_024448912.1:c.1114G>A	XP_024304680.1:p.Glu372Lys
NM_012463.4:c.1936G>A MANE Select	NP_036595.2:p.Glu646Lys