Canonical Allele Identifier: CA581596376

Gene: AP3M2

Linked Data

• dbSNP Id: rs1185463521
• gnomAD v2: 8-42026806-G-A
• gnomAD v3: 8-42169288-G-A
• gnomAD v4: 8-42169288-G-A
• MyVariant Identifiers: chr8:g.42026806G>A (hg19) ; chr8:g.42169288G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169288G>A , CM000670.2:g.42169288G>A	GRCh38
NC_000008.10:g.42026806G>A , CM000670.1:g.42026806G>A	GRCh37
NC_000008.9:g.42145963G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*227G>A MANE Select	ENSP00000380132.3:n.*227G>A
ENST00000174653.3:c.*227G>A	ENSP00000174653.3:n.*227G>A
ENST00000396926.7:c.*227G>A	ENSP00000380132.3:n.*227G>A
ENST00000518421.5:c.*227G>A	ENSP00000428787.1:n.*227G>A
ENST00000520689.1:c.371+3G>A	ENSP00000429804.1:n.371+3G>A
NM_001134296.1:c.*227G>A	NP_001127768.1:n.*227G>A
NM_006803.3:c.*227G>A	NP_006794.1:n.*227G>A
XM_017012977.2:c.*227G>A	XP_016868466.1:n.*227G>A
XR_001745459.2:n.1769G>A
NM_006803.4:c.*227G>A MANE Select	NP_006794.1:n.*227G>A
NM_001134296.2:c.*227G>A	NP_001127768.1:n.*227G>A