Canonical Allele Identifier: CA851854263

Gene: AP3M2

Linked Data

• dbSNP Id: rs1231646815
• gnomAD v3: 8-42169780-A-G
• gnomAD v4: 8-42169780-A-G
• MyVariant Identifiers: chr8:g.42027298A>G (hg19) ; chr8:g.42169780A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169780A>G , CM000670.2:g.42169780A>G	GRCh38
NC_000008.10:g.42027298A>G , CM000670.1:g.42027298A>G	GRCh37
NC_000008.9:g.42146455A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*719A>G MANE Select	ENSP00000380132.3:n.*719A>G
ENST00000174653.3:c.*719A>G	ENSP00000174653.3:n.*719A>G
ENST00000396926.7:c.*719A>G	ENSP00000380132.3:n.*719A>G
ENST00000518421.5:c.*719A>G	ENSP00000428787.1:n.*719A>G
ENST00000520689.1:c.372-109A>G	ENSP00000429804.1:n.372-109A>G
NM_001134296.1:c.*719A>G	NP_001127768.1:n.*719A>G
NM_006803.3:c.*719A>G	NP_006794.1:n.*719A>G
XM_017012977.2:c.*719A>G	XP_016868466.1:n.*719A>G
XR_001745459.2:n.2261A>G
NM_006803.4:c.*719A>G MANE Select	NP_006794.1:n.*719A>G
NM_001134296.2:c.*719A>G	NP_001127768.1:n.*719A>G