Canonical Allele Identifier: CA482271349

Gene: ATP6V0A2

Linked Data

• MyVariant Identifiers: chr12:g.124235665C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123751118C>G , CM000674.2:g.123751118C>G	GRCh38
NC_000012.11:g.124235665C>G , CM000674.1:g.124235665C>G	GRCh37
NC_000012.10:g.122801618C>G	NCBI36
NG_012743.1:g.43801C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000330342.8:c.1944C>G MANE Select	ENSP00000332247.2:p.Val648=
ENST00000540368.6:n.1975C>G
ENST00000674794.1:c.2032C>G
ENST00000675260.1:n.1219C>G
ENST00000675344.1:c.*965C>G	ENSP00000501953.1:n.*965C>G
ENST00000330342.7:c.1944C>G	ENSP00000332247.2:p.Val648=
ENST00000534943.5:c.-217C>G	ENSP00000443726.1:n.-217C>G
NM_012463.3:c.1944C>G	NP_036595.2:p.Val648=
XM_005253563.1:c.1936-1165C>G	XP_005253620.1:n.1936-1165C>G
XM_006719317.2:c.1431C>G	XP_006719380.1:p.Val477=
XM_006719318.2:c.1122C>G	XP_006719381.1:p.Val374=
XR_429088.1:n.2107C>G
XM_024448910.1:c.1936-1165C>G	XP_024304678.1:n.1936-1165C>G
XM_024448911.1:c.1431C>G	XP_024304679.1:p.Val477=
XM_024448912.1:c.1122C>G	XP_024304680.1:p.Val374=
NM_012463.4:c.1944C>G MANE Select	NP_036595.2:p.Val648=