Canonical Allele Identifier: CA176004461

Gene: AP3M2

Linked Data

• dbSNP Id: rs72641449
• gnomAD v2: 8-42026865-G-A
• gnomAD v3: 8-42169347-G-A
• gnomAD v4: 8-42169347-G-A
• MyVariant Identifiers: chr8:g.42026865G>A (hg19) ; chr8:g.42169347G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169347G>A , CM000670.2:g.42169347G>A	GRCh38
NC_000008.10:g.42026865G>A , CM000670.1:g.42026865G>A	GRCh37
NC_000008.9:g.42146022G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*286G>A MANE Select	ENSP00000380132.3:n.*286G>A
ENST00000174653.3:c.*286G>A	ENSP00000174653.3:n.*286G>A
ENST00000396926.7:c.*286G>A	ENSP00000380132.3:n.*286G>A
ENST00000518421.5:c.*286G>A	ENSP00000428787.1:n.*286G>A
ENST00000520689.1:c.371+62G>A	ENSP00000429804.1:n.371+62G>A
NM_001134296.1:c.*286G>A	NP_001127768.1:n.*286G>A
NM_006803.3:c.*286G>A	NP_006794.1:n.*286G>A
XM_017012977.2:c.*286G>A	XP_016868466.1:n.*286G>A
XR_001745459.2:n.1828G>A
NM_006803.4:c.*286G>A MANE Select	NP_006794.1:n.*286G>A
NM_001134296.2:c.*286G>A	NP_001127768.1:n.*286G>A