Canonical Allele Identifier: CA387156578

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124228816G>A (hg19) ; chr12:g.123744269G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744269G>A , CM000674.2:g.123744269G>A	GRCh38
NC_000012.11:g.124228816G>A , CM000674.1:g.124228816G>A	GRCh37
NC_000012.10:g.122794769G>A	NCBI36
NG_012743.1:g.36952G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1258G>A MANE Select	ENSP00000332247.2:p.Val420Met
ENST00000540368.6:n.1289G>A
ENST00000674794.1:c.1346G>A
ENST00000675260.1:n.533G>A
ENST00000675344.1:c.*279G>A	ENSP00000501953.1:n.*279G>A
ENST00000330342.7:c.1258G>A	ENSP00000332247.2:p.Val420Met
ENST00000504192.2:c.868G>A	ENSP00000443441.1:p.Val290Met
ENST00000536426.1:n.275G>A
ENST00000545059.5:n.3894G>A
NM_012463.3:c.1258G>A	NP_036595.2:p.Val420Met
XM_005253563.1:c.1258G>A	XP_005253620.1:p.Val420Met
XM_006719317.2:c.745G>A	XP_006719380.1:p.Val249Met
XM_006719318.2:c.436G>A	XP_006719381.1:p.Val146Met
XR_429088.1:n.1421G>A
XM_024448910.1:c.1258G>A	XP_024304678.1:p.Val420Met
XM_024448911.1:c.745G>A	XP_024304679.1:p.Val249Met
XM_024448912.1:c.436G>A	XP_024304680.1:p.Val146Met
NM_012463.4:c.1258G>A MANE Select	NP_036595.2:p.Val420Met