Canonical Allele Identifier: CA387162814

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124235658A>G (hg19) ; chr12:g.123751111A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123751111A>G , CM000674.2:g.123751111A>G	GRCh38
NC_000012.11:g.124235658A>G , CM000674.1:g.124235658A>G	GRCh37
NC_000012.10:g.122801611A>G	NCBI36
NG_012743.1:g.43794A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000330342.8:c.1937A>G MANE Select	ENSP00000332247.2:p.Glu646Gly
ENST00000540368.6:n.1968A>G
ENST00000674794.1:c.2025A>G
ENST00000675260.1:n.1212A>G
ENST00000675344.1:c.*958A>G	ENSP00000501953.1:n.*958A>G
ENST00000330342.7:c.1937A>G	ENSP00000332247.2:p.Glu646Gly
ENST00000534943.5:c.-224A>G	ENSP00000443726.1:n.-224A>G
NM_012463.3:c.1937A>G	NP_036595.2:p.Glu646Gly
XM_005253563.1:c.1936-1172A>G	XP_005253620.1:n.1936-1172A>G
XM_006719317.2:c.1424A>G	XP_006719380.1:p.Glu475Gly
XM_006719318.2:c.1115A>G	XP_006719381.1:p.Glu372Gly
XR_429088.1:n.2100A>G
XM_024448910.1:c.1936-1172A>G	XP_024304678.1:n.1936-1172A>G
XM_024448911.1:c.1424A>G	XP_024304679.1:p.Glu475Gly
XM_024448912.1:c.1115A>G	XP_024304680.1:p.Glu372Gly
NM_012463.4:c.1937A>G MANE Select	NP_036595.2:p.Glu646Gly