Canonical Allele Identifier: CA387157333

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124229164T>G (hg19) ; chr12:g.123744617T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744617T>G , CM000674.2:g.123744617T>G	GRCh38
NC_000012.11:g.124229164T>G , CM000674.1:g.124229164T>G	GRCh37
NC_000012.10:g.122795117T>G	NCBI36
NG_012743.1:g.37300T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1347T>G MANE Select	ENSP00000332247.2:p.Asn449Lys
ENST00000540368.6:n.1378T>G
ENST00000674794.1:c.1435T>G
ENST00000675260.1:n.622T>G
ENST00000675344.1:c.*368T>G	ENSP00000501953.1:n.*368T>G
ENST00000330342.7:c.1347T>G	ENSP00000332247.2:p.Asn449Lys
ENST00000504192.2:c.957T>G	ENSP00000443441.1:p.Asn319Lys
ENST00000536426.1:n.364T>G
ENST00000545059.5:n.3983T>G
NM_012463.3:c.1347T>G	NP_036595.2:p.Asn449Lys
XM_005253563.1:c.1347T>G	XP_005253620.1:p.Asn449Lys
XM_006719317.2:c.834T>G	XP_006719380.1:p.Asn278Lys
XM_006719318.2:c.525T>G	XP_006719381.1:p.Asn175Lys
XR_429088.1:n.1510T>G
XM_024448910.1:c.1347T>G	XP_024304678.1:p.Asn449Lys
XM_024448911.1:c.834T>G	XP_024304679.1:p.Asn278Lys
XM_024448912.1:c.525T>G	XP_024304680.1:p.Asn175Lys
NM_012463.4:c.1347T>G MANE Select	NP_036595.2:p.Asn449Lys