Canonical Allele Identifier: CA581596397

Gene: AP3M2

Linked Data

• dbSNP Id: rs1376648875
• gnomAD v2: 8-42027277-G-A
• gnomAD v3: 8-42169759-G-A
• gnomAD v4: 8-42169759-G-A
• MyVariant Identifiers: chr8:g.42027277G>A (hg19) ; chr8:g.42169759G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169759G>A , CM000670.2:g.42169759G>A	GRCh38
NC_000008.10:g.42027277G>A , CM000670.1:g.42027277G>A	GRCh37
NC_000008.9:g.42146434G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396926.8:c.*698G>A MANE Select	ENSP00000380132.3:n.*698G>A
ENST00000174653.3:c.*698G>A	ENSP00000174653.3:n.*698G>A
ENST00000396926.7:c.*698G>A	ENSP00000380132.3:n.*698G>A
ENST00000518421.5:c.*698G>A	ENSP00000428787.1:n.*698G>A
ENST00000520689.1:c.372-130G>A	ENSP00000429804.1:n.372-130G>A
NM_001134296.1:c.*698G>A	NP_001127768.1:n.*698G>A
NM_006803.3:c.*698G>A	NP_006794.1:n.*698G>A
XM_017012977.2:c.*698G>A	XP_016868466.1:n.*698G>A
XR_001745459.2:n.2240G>A
NM_006803.4:c.*698G>A MANE Select	NP_006794.1:n.*698G>A
NM_001134296.2:c.*698G>A	NP_001127768.1:n.*698G>A