Canonical Allele Identifier: CA15539620

Gene: AP3M2

Linked Data

• dbSNP Id: rs34361836
• gnomAD v2: 8-42026968-A-T
• gnomAD v3: 8-42169450-A-T
• gnomAD v4: 8-42169450-A-T
• MyVariant Identifiers: chr8:g.42026968A>T (hg19) ; chr8:g.42169450A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169450A>T , CM000670.2:g.42169450A>T	GRCh38
NC_000008.10:g.42026968A>T , CM000670.1:g.42026968A>T	GRCh37
NC_000008.9:g.42146125A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*389A>T MANE Select	ENSP00000380132.3:n.*389A>T
ENST00000174653.3:c.*389A>T	ENSP00000174653.3:n.*389A>T
ENST00000396926.7:c.*389A>T	ENSP00000380132.3:n.*389A>T
ENST00000518421.5:c.*389A>T	ENSP00000428787.1:n.*389A>T
ENST00000520689.1:c.371+165A>T	ENSP00000429804.1:n.371+165A>T
NM_001134296.1:c.*389A>T	NP_001127768.1:n.*389A>T
NM_006803.3:c.*389A>T	NP_006794.1:n.*389A>T
XM_017012977.2:c.*389A>T	XP_016868466.1:n.*389A>T
XR_001745459.2:n.1931A>T
NM_006803.4:c.*389A>T MANE Select	NP_006794.1:n.*389A>T
NM_001134296.2:c.*389A>T	NP_001127768.1:n.*389A>T