Canonical Allele Identifier: CA176004684

Gene: AP3M2

Linked Data

• dbSNP Id: rs141909636
• gnomAD v2: 8-42027165-C-T
• gnomAD v3: 8-42169647-C-T
• gnomAD v4: 8-42169647-C-T
• MyVariant Identifiers: chr8:g.42027165C>T (hg19) ; chr8:g.42169647C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169647C>T , CM000670.2:g.42169647C>T	GRCh38
NC_000008.10:g.42027165C>T , CM000670.1:g.42027165C>T	GRCh37
NC_000008.9:g.42146322C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396926.8:c.*586C>T MANE Select	ENSP00000380132.3:n.*586C>T
ENST00000174653.3:c.*586C>T	ENSP00000174653.3:n.*586C>T
ENST00000396926.7:c.*586C>T	ENSP00000380132.3:n.*586C>T
ENST00000518421.5:c.*586C>T	ENSP00000428787.1:n.*586C>T
ENST00000520689.1:c.372-242C>T	ENSP00000429804.1:n.372-242C>T
NM_001134296.1:c.*586C>T	NP_001127768.1:n.*586C>T
NM_006803.3:c.*586C>T	NP_006794.1:n.*586C>T
XM_017012977.2:c.*586C>T	XP_016868466.1:n.*586C>T
XR_001745459.2:n.2128C>T
NM_006803.4:c.*586C>T MANE Select	NP_006794.1:n.*586C>T
NM_001134296.2:c.*586C>T	NP_001127768.1:n.*586C>T