Canonical Allele Identifier: CA2687083841

Gene: AP3M2

Linked Data

• gnomAD v4: 8-42169315-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169315T>G , CM000670.2:g.42169315T>G	GRCh38
NC_000008.10:g.42026833T>G , CM000670.1:g.42026833T>G	GRCh37
NC_000008.9:g.42145990T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*254T>G MANE Select	ENSP00000380132.3:n.*254T>G
ENST00000174653.3:c.*254T>G	ENSP00000174653.3:n.*254T>G
ENST00000396926.7:c.*254T>G	ENSP00000380132.3:n.*254T>G
ENST00000518421.5:c.*254T>G	ENSP00000428787.1:n.*254T>G
ENST00000520689.1:c.371+30T>G	ENSP00000429804.1:n.371+30T>G
NM_001134296.1:c.*254T>G	NP_001127768.1:n.*254T>G
NM_006803.3:c.*254T>G	NP_006794.1:n.*254T>G
XM_017012977.2:c.*254T>G	XP_016868466.1:n.*254T>G
XR_001745459.2:n.1796T>G
NM_006803.4:c.*254T>G MANE Select	NP_006794.1:n.*254T>G
NM_001134296.2:c.*254T>G	NP_001127768.1:n.*254T>G