Canonical Allele Identifier: CA387156169

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124228750C>T (hg19) ; chr12:g.123744203C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744203C>T , CM000674.2:g.123744203C>T	GRCh38
NC_000012.11:g.124228750C>T , CM000674.1:g.124228750C>T	GRCh37
NC_000012.10:g.122794703C>T	NCBI36
NG_012743.1:g.36886C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1192C>T MANE Select	ENSP00000332247.2:p.Leu398Phe
ENST00000540368.6:n.1223C>T
ENST00000674794.1:c.1280C>T
ENST00000675260.1:n.467C>T
ENST00000675344.1:c.*213C>T	ENSP00000501953.1:n.*213C>T
ENST00000330342.7:c.1192C>T	ENSP00000332247.2:p.Leu398Phe
ENST00000504192.2:c.802C>T	ENSP00000443441.1:p.Leu268Phe
ENST00000536426.1:n.209C>T
ENST00000545059.5:n.3828C>T
NM_012463.3:c.1192C>T	NP_036595.2:p.Leu398Phe
XM_005253563.1:c.1192C>T	XP_005253620.1:p.Leu398Phe
XM_006719317.2:c.679C>T	XP_006719380.1:p.Leu227Phe
XM_006719318.2:c.370C>T	XP_006719381.1:p.Leu124Phe
XR_429088.1:n.1355C>T
XM_024448910.1:c.1192C>T	XP_024304678.1:p.Leu398Phe
XM_024448911.1:c.679C>T	XP_024304679.1:p.Leu227Phe
XM_024448912.1:c.370C>T	XP_024304680.1:p.Leu124Phe
NM_012463.4:c.1192C>T MANE Select	NP_036595.2:p.Leu398Phe