Canonical Allele Identifier: CA2068975510
Community Standard Title: NM_012463.4(ATP6V0A2):c.294+1G=
Gene: ATP6V0A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123722449G= , CM000674.2:g.123722449G= GRCh38
NC_000012.11:g.124206996G= , CM000674.1:g.124206996G= GRCh37
NC_000012.10:g.122772949G= NCBI36
NG_012743.1:g.15132G=

Transcript Alleles

HGVS Amino-acid Change
NM_012463.4:c.294+1G= MANE Select NP_036595.2:n.294+1G=
ENST00000330342.8:c.294+1G= MANE Select ENSP00000332247.2:n.294+1G=
NM_012463.3:c.294+1G= NP_036595.2:n.294+1G=
ENST00000330342.7:c.294+1G= ENSP00000332247.2:n.294+1G=
ENST00000540368.5:n.504+1G=
ENST00000540368.6:n.325+1G=
ENST00000613625.4:c.294+1G= ENSP00000482236.1:n.294+1G=
ENST00000613625.5:c.294+1G= ENSP00000482236.1:n.294+1G=
ENST00000675344.1:c.294+1G= ENSP00000501953.1:n.294+1G=
XM_005253563.1:c.294+1G= XP_005253620.1:n.294+1G=
XM_024448910.1:c.294+1G= XP_024304678.1:n.294+1G=
XR_429088.1:n.457+1G=
XR_945477.1:n.1099+561C=
XR_945477.3:n.491+561C=
XR_945478.1:n.1099+561C=
XR_945478.3:n.491+561C=
XR_945479.1:n.1099+561C=