Canonical Allele Identifier: CA371085425

Gene: AP3M2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42165094C>T , CM000670.2:g.42165094C>T	GRCh38
NC_000008.10:g.42022612C>T , CM000670.1:g.42022612C>T	GRCh37
NC_000008.9:g.42141769C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006803.4:c.607C>T MANE Select	NP_006794.1:p.Gln203Ter
ENST00000396926.8:c.607C>T MANE Select	ENSP00000380132.3:p.Gln203Ter
NM_001134296.1:c.607C>T	NP_001127768.1:p.Gln203Ter
NM_001134296.2:c.607C>T	NP_001127768.1:p.Gln203Ter
NM_006803.3:c.607C>T	NP_006794.1:p.Gln203Ter
ENST00000174653.3:c.607C>T	ENSP00000174653.3:p.Gln203Ter
ENST00000396926.7:c.607C>T	ENSP00000380132.3:p.Gln203Ter
ENST00000517499.5:c.196C>T	ENSP00000429037.1:p.Gln66Ter
ENST00000517865.5:c.*338C>T	ENSP00000430200.1:n.*338C>T
ENST00000517922.5:c.607C>T	ENSP00000429435.1:p.Gln203Ter
ENST00000518421.5:c.607C>T	ENSP00000428787.1:p.Gln203Ter
ENST00000520685.1:n.78-2572C>T
ENST00000521280.5:c.262C>T	ENSP00000430616.1:p.Gln88Ter
ENST00000521899.1:n.374C>T
ENST00000523249.1:n.612C>T
ENST00000530375.5:c.607C>T	ENSP00000431918.1:p.Gln203Ter
XM_017012977.2:c.607C>T	XP_016868466.1:p.Gln203Ter
XR_001745459.2:n.750C>T