Canonical Allele Identifier: CA2068977466
Gene: ATP6V0A2 HGNC NCBI

Linked Data

dbSNP Id: rs11837144

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123724805C>G , CM000674.2:g.123724805C>G GRCh38
NC_000012.11:g.124209352C>G , CM000674.1:g.124209352C>G GRCh37
NC_000012.10:g.122775305C>G NCBI36
NG_012743.1:g.17488C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330342.8:c.432+14C>G MANE Select ENSP00000332247.2:n.432+14C>G
ENST00000540368.6:n.463+14C>G
ENST00000613625.5:c.432+14C>G ENSP00000482236.1:n.432+14C>G
ENST00000675344.1:c.432+14C>G ENSP00000501953.1:n.432+14C>G
ENST00000330342.7:c.432+14C>G ENSP00000332247.2:n.432+14C>G
ENST00000504192.2:c.42+14C>G ENSP00000443441.1:n.42+14C>G
ENST00000540368.5:n.642+14C>G
ENST00000613625.4:c.432+14C>G ENSP00000482236.1:n.432+14C>G
NM_012463.3:c.432+14C>G NP_036595.2:n.432+14C>G
XM_005253563.1:c.432+14C>G XP_005253620.1:n.432+14C>G
XM_006719317.2:c.8+14C>G XP_006719380.1:n.8+14C>G
XR_429088.1:n.595+14C>G
XM_024448910.1:c.432+14C>G XP_024304678.1:n.432+14C>G
XM_024448911.1:c.8+14C>G XP_024304679.1:n.8+14C>G
NM_012463.4:c.432+14C>G MANE Select NP_036595.2:n.432+14C>G