Canonical Allele Identifier: CA482270950

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124228800C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744253C>T , CM000674.2:g.123744253C>T	GRCh38
NC_000012.11:g.124228800C>T , CM000674.1:g.124228800C>T	GRCh37
NC_000012.10:g.122794753C>T	NCBI36
NG_012743.1:g.36936C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000330342.8:c.1242C>T MANE Select	ENSP00000332247.2:p.Asp414=
ENST00000540368.6:n.1273C>T
ENST00000674794.1:c.1330C>T
ENST00000675260.1:n.517C>T
ENST00000675344.1:c.*263C>T	ENSP00000501953.1:n.*263C>T
ENST00000330342.7:c.1242C>T	ENSP00000332247.2:p.Asp414=
ENST00000504192.2:c.852C>T	ENSP00000443441.1:p.Asp284=
ENST00000536426.1:n.259C>T
ENST00000545059.5:n.3878C>T
NM_012463.3:c.1242C>T	NP_036595.2:p.Asp414=
XM_005253563.1:c.1242C>T	XP_005253620.1:p.Asp414=
XM_006719317.2:c.729C>T	XP_006719380.1:p.Asp243=
XM_006719318.2:c.420C>T	XP_006719381.1:p.Asp140=
XR_429088.1:n.1405C>T
XM_024448910.1:c.1242C>T	XP_024304678.1:p.Asp414=
XM_024448911.1:c.729C>T	XP_024304679.1:p.Asp243=
XM_024448912.1:c.420C>T	XP_024304680.1:p.Asp140=
NM_012463.4:c.1242C>T MANE Select	NP_036595.2:p.Asp414=