Canonical Allele Identifier: CA581596396

Gene: AP3M2

Linked Data

• dbSNP Id: rs1196497348
• gnomAD v2: 8-42027269-C-T
• gnomAD v3: 8-42169751-C-T
• gnomAD v4: 8-42169751-C-T
• MyVariant Identifiers: chr8:g.42027269C>T (hg19) ; chr8:g.42169751C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169751C>T , CM000670.2:g.42169751C>T	GRCh38
NC_000008.10:g.42027269C>T , CM000670.1:g.42027269C>T	GRCh37
NC_000008.9:g.42146426C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396926.8:c.*690C>T MANE Select	ENSP00000380132.3:n.*690C>T
ENST00000174653.3:c.*690C>T	ENSP00000174653.3:n.*690C>T
ENST00000396926.7:c.*690C>T	ENSP00000380132.3:n.*690C>T
ENST00000518421.5:c.*690C>T	ENSP00000428787.1:n.*690C>T
ENST00000520689.1:c.372-138C>T	ENSP00000429804.1:n.372-138C>T
NM_001134296.1:c.*690C>T	NP_001127768.1:n.*690C>T
NM_006803.3:c.*690C>T	NP_006794.1:n.*690C>T
XM_017012977.2:c.*690C>T	XP_016868466.1:n.*690C>T
XR_001745459.2:n.2232C>T
NM_006803.4:c.*690C>T MANE Select	NP_006794.1:n.*690C>T
NM_001134296.2:c.*690C>T	NP_001127768.1:n.*690C>T