Canonical Allele Identifier: CA16042840
Gene: ATP6V0A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 373538
dbSNP Id: rs941238473

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123754490A>G , CM000674.2:g.123754490A>G GRCh38
NC_000012.11:g.124239037A>G , CM000674.1:g.124239037A>G GRCh37
NC_000012.10:g.122804990A>G NCBI36
NG_012743.1:g.47173A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000330342.8:c.2246A>G MANE Select ENSP00000332247.2:p.Asn749Ser
ENST00000540368.6:n.2277A>G
ENST00000674794.1:c.2334A>G
ENST00000675344.1:c.*1267A>G ENSP00000501953.1:n.*1267A>G
ENST00000330342.7:c.2246A>G ENSP00000332247.2:p.Asn749Ser
ENST00000534943.5:c.86A>G ENSP00000443726.1:p.Asn29Ser
ENST00000544833.1:c.92A>G ENSP00000441143.1:p.Asn31Ser
NM_012463.3:c.2246A>G NP_036595.2:p.Asn749Ser
XM_005253563.1:c.2126A>G XP_005253620.1:p.Asn709Ser
XM_006719317.2:c.1733A>G XP_006719380.1:p.Asn578Ser
XM_006719318.2:c.1424A>G XP_006719381.1:p.Asn475Ser
XR_429088.1:n.2409A>G
XM_024448910.1:c.2126A>G XP_024304678.1:p.Asn709Ser
XM_024448911.1:c.1733A>G XP_024304679.1:p.Asn578Ser
XM_024448912.1:c.1424A>G XP_024304680.1:p.Asn475Ser
NM_012463.4:c.2246A>G MANE Select NP_036595.2:p.Asn749Ser