Canonical Allele Identifier: CA387151724

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124209259T>G (hg19) ; chr12:g.123724712T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123724712T>G , CM000674.2:g.123724712T>G	GRCh38
NC_000012.11:g.124209259T>G , CM000674.1:g.124209259T>G	GRCh37
NC_000012.10:g.122775212T>G	NCBI36
NG_012743.1:g.17395T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000330342.8:c.353T>G MANE Select	ENSP00000332247.2:p.Leu118Arg
ENST00000540368.6:n.384T>G
ENST00000613625.5:c.353T>G	ENSP00000482236.1:p.Leu118Arg
ENST00000675344.1:c.353T>G	ENSP00000501953.1:p.Leu118Arg
ENST00000330342.7:c.353T>G	ENSP00000332247.2:p.Leu118Arg
ENST00000504192.2:c.-38T>G	ENSP00000443441.1:n.-38T>G
ENST00000540368.5:n.563T>G
ENST00000613625.4:c.353T>G	ENSP00000482236.1:p.Leu118Arg
NM_012463.3:c.353T>G	NP_036595.2:p.Leu118Arg
XM_005253563.1:c.353T>G	XP_005253620.1:p.Leu118Arg
XM_006719317.2:c.-72T>G	XP_006719380.1:n.-72T>G
XR_429088.1:n.516T>G
XM_024448910.1:c.353T>G	XP_024304678.1:p.Leu118Arg
XM_024448911.1:c.-72T>G	XP_024304679.1:n.-72T>G
NM_012463.4:c.353T>G MANE Select	NP_036595.2:p.Leu118Arg