Canonical Allele Identifier: CA176004519

Gene: AP3M2

Linked Data

• dbSNP Id: rs960180717
• gnomAD v3: 8-42169452-G-C
• gnomAD v4: 8-42169452-G-C
• MyVariant Identifiers: chr8:g.42026970G>C (hg19) ; chr8:g.42169452G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42169452G>C , CM000670.2:g.42169452G>C	GRCh38
NC_000008.10:g.42026970G>C , CM000670.1:g.42026970G>C	GRCh37
NC_000008.9:g.42146127G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396926.8:c.*391G>C MANE Select	ENSP00000380132.3:n.*391G>C
ENST00000174653.3:c.*391G>C	ENSP00000174653.3:n.*391G>C
ENST00000396926.7:c.*391G>C	ENSP00000380132.3:n.*391G>C
ENST00000518421.5:c.*391G>C	ENSP00000428787.1:n.*391G>C
ENST00000520689.1:c.371+167G>C	ENSP00000429804.1:n.371+167G>C
NM_001134296.1:c.*391G>C	NP_001127768.1:n.*391G>C
NM_006803.3:c.*391G>C	NP_006794.1:n.*391G>C
XM_017012977.2:c.*391G>C	XP_016868466.1:n.*391G>C
XR_001745459.2:n.1933G>C
NM_006803.4:c.*391G>C MANE Select	NP_006794.1:n.*391G>C
NM_001134296.2:c.*391G>C	NP_001127768.1:n.*391G>C