Canonical Allele Identifier: CA387156481
Gene: ATP6V0A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123744252A>G , CM000674.2:g.123744252A>G GRCh38
NC_000012.11:g.124228799A>G , CM000674.1:g.124228799A>G GRCh37
NC_000012.10:g.122794752A>G NCBI36
NG_012743.1:g.36935A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330342.8:c.1241A>G MANE Select ENSP00000332247.2:p.Asp414Gly
ENST00000540368.6:n.1272A>G
ENST00000674794.1:c.1329A>G
ENST00000675260.1:n.516A>G
ENST00000675344.1:c.*262A>G ENSP00000501953.1:n.*262A>G
ENST00000330342.7:c.1241A>G ENSP00000332247.2:p.Asp414Gly
ENST00000504192.2:c.851A>G ENSP00000443441.1:p.Asp284Gly
ENST00000536426.1:n.258A>G
ENST00000545059.5:n.3877A>G
NM_012463.3:c.1241A>G NP_036595.2:p.Asp414Gly
XM_005253563.1:c.1241A>G XP_005253620.1:p.Asp414Gly
XM_006719317.2:c.728A>G XP_006719380.1:p.Asp243Gly
XM_006719318.2:c.419A>G XP_006719381.1:p.Asp140Gly
XR_429088.1:n.1404A>G
XM_024448910.1:c.1241A>G XP_024304678.1:p.Asp414Gly
XM_024448911.1:c.728A>G XP_024304679.1:p.Asp243Gly
XM_024448912.1:c.419A>G XP_024304680.1:p.Asp140Gly
NM_012463.4:c.1241A>G MANE Select NP_036595.2:p.Asp414Gly