Canonical Allele Identifier: CA387153848

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124220087C>G (hg19) ; chr12:g.123735540C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123735540C>G , CM000674.2:g.123735540C>G	GRCh38
NC_000012.11:g.124220087C>G , CM000674.1:g.124220087C>G	GRCh37
NC_000012.10:g.122786040C>G	NCBI36
NG_012743.1:g.28223C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.741C>G MANE Select	ENSP00000332247.2:p.Cys247Trp
ENST00000540368.6:n.772C>G
ENST00000613625.5:c.741C>G	ENSP00000482236.1:p.Cys247Trp
ENST00000674794.1:c.181C>G
ENST00000675344.1:c.741C>G	ENSP00000501953.1:p.Cys247Trp
ENST00000330342.7:c.741C>G	ENSP00000332247.2:p.Cys247Trp
ENST00000504192.2:c.351C>G	ENSP00000443441.1:p.Cys117Trp
ENST00000540368.5:n.951C>G
ENST00000545059.5:n.3377C>G
ENST00000613625.4:c.741C>G	ENSP00000482236.1:p.Cys247Trp
NM_012463.3:c.741C>G	NP_036595.2:p.Cys247Trp
XM_005253563.1:c.741C>G	XP_005253620.1:p.Cys247Trp
XM_006719317.2:c.228C>G	XP_006719380.1:p.Cys76Trp
XR_429088.1:n.904C>G
XM_024448910.1:c.741C>G	XP_024304678.1:p.Cys247Trp
XM_024448911.1:c.228C>G	XP_024304679.1:p.Cys76Trp
NM_012463.4:c.741C>G MANE Select	NP_036595.2:p.Cys247Trp