Canonical Allele Identifier: CA2687084080
Gene: AP3M2 HGNC NCBI

Linked Data

gnomAD v4: 8-42169756-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42169756A>G , CM000670.2:g.42169756A>G GRCh38
NC_000008.10:g.42027274A>G , CM000670.1:g.42027274A>G GRCh37
NC_000008.9:g.42146431A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000396926.8:c.*695A>G MANE Select ENSP00000380132.3:n.*695A>G
ENST00000174653.3:c.*695A>G ENSP00000174653.3:n.*695A>G
ENST00000396926.7:c.*695A>G ENSP00000380132.3:n.*695A>G
ENST00000518421.5:c.*695A>G ENSP00000428787.1:n.*695A>G
ENST00000520689.1:c.372-133A>G ENSP00000429804.1:n.372-133A>G
NM_001134296.1:c.*695A>G NP_001127768.1:n.*695A>G
NM_006803.3:c.*695A>G NP_006794.1:n.*695A>G
XM_017012977.2:c.*695A>G XP_016868466.1:n.*695A>G
XR_001745459.2:n.2237A>G
NM_006803.4:c.*695A>G MANE Select NP_006794.1:n.*695A>G
NM_001134296.2:c.*695A>G NP_001127768.1:n.*695A>G
Search 100 bp 5'
Search 100 bp 3'