Canonical Allele Identifier: CA1113194722

Gene: AP3M2

Linked Data

• dbSNP Id: rs1162356150
• gnomAD v3: 8-42169761-A-G
• gnomAD v4: 8-42169761-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169761A>G , CM000670.2:g.42169761A>G	GRCh38
NC_000008.10:g.42027279A>G , CM000670.1:g.42027279A>G	GRCh37
NC_000008.9:g.42146436A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396926.8:c.*700A>G MANE Select	ENSP00000380132.3:n.*700A>G
ENST00000174653.3:c.*700A>G	ENSP00000174653.3:n.*700A>G
ENST00000396926.7:c.*700A>G	ENSP00000380132.3:n.*700A>G
ENST00000518421.5:c.*700A>G	ENSP00000428787.1:n.*700A>G
ENST00000520689.1:c.372-128A>G	ENSP00000429804.1:n.372-128A>G
NM_001134296.1:c.*700A>G	NP_001127768.1:n.*700A>G
NM_006803.3:c.*700A>G	NP_006794.1:n.*700A>G
XM_017012977.2:c.*700A>G	XP_016868466.1:n.*700A>G
XR_001745459.2:n.2242A>G
NM_006803.4:c.*700A>G MANE Select	NP_006794.1:n.*700A>G
NM_001134296.2:c.*700A>G	NP_001127768.1:n.*700A>G