Canonical Allele Identifier: CA2687084062
Gene: AP3M2 HGNC NCBI

Linked Data

gnomAD v4: 8-42169673-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42169673A>G , CM000670.2:g.42169673A>G GRCh38
NC_000008.10:g.42027191A>G , CM000670.1:g.42027191A>G GRCh37
NC_000008.9:g.42146348A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000396926.8:c.*612A>G MANE Select ENSP00000380132.3:n.*612A>G
ENST00000174653.3:c.*612A>G ENSP00000174653.3:n.*612A>G
ENST00000396926.7:c.*612A>G ENSP00000380132.3:n.*612A>G
ENST00000518421.5:c.*612A>G ENSP00000428787.1:n.*612A>G
ENST00000520689.1:c.372-216A>G ENSP00000429804.1:n.372-216A>G
NM_001134296.1:c.*612A>G NP_001127768.1:n.*612A>G
NM_006803.3:c.*612A>G NP_006794.1:n.*612A>G
XM_017012977.2:c.*612A>G XP_016868466.1:n.*612A>G
XR_001745459.2:n.2154A>G
NM_006803.4:c.*612A>G MANE Select NP_006794.1:n.*612A>G
NM_001134296.2:c.*612A>G NP_001127768.1:n.*612A>G
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