Canonical Allele Identifier: CA176004819

Gene: AP3M2

Linked Data

• dbSNP Id: rs975956588
• gnomAD v2: 8-42027355-G-T
• gnomAD v3: 8-42169837-G-T
• gnomAD v4: 8-42169837-G-T
• MyVariant Identifiers: chr8:g.42027355G>T (hg19) ; chr8:g.42169837G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169837G>T , CM000670.2:g.42169837G>T	GRCh38
NC_000008.10:g.42027355G>T , CM000670.1:g.42027355G>T	GRCh37
NC_000008.9:g.42146512G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*776G>T MANE Select	ENSP00000380132.3:n.*776G>T
ENST00000174653.3:c.*776G>T	ENSP00000174653.3:n.*776G>T
ENST00000396926.7:c.*776G>T	ENSP00000380132.3:n.*776G>T
ENST00000518421.5:c.*776G>T	ENSP00000428787.1:n.*776G>T
ENST00000520689.1:c.372-52G>T	ENSP00000429804.1:n.372-52G>T
NM_001134296.1:c.*776G>T	NP_001127768.1:n.*776G>T
NM_006803.3:c.*776G>T	NP_006794.1:n.*776G>T
XM_017012977.2:c.*776G>T	XP_016868466.1:n.*776G>T
XR_001745459.2:n.2318G>T
NM_006803.4:c.*776G>T MANE Select	NP_006794.1:n.*776G>T
NM_001134296.2:c.*776G>T	NP_001127768.1:n.*776G>T