Canonical Allele Identifier: CA14089463
Gene: AP3S2 HGNC NCBI
ARPIN-AP3S2 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.89831025C>A
GRCh37 chr15:g.90374257C>A
gnomAD v2:
15:90374257 C / A
gnomAD v3:
15:89831025 C / A
gnomAD v4:
chr15-89831025-C-A
Joint Max Group AF 0.77652032 (EAS)
Genomes Max Group AF 0.77956844 (EAS)
Exomes Max Group AF 0.61114041 (NFE)
dbSNP:
2028299
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89831025C>A , CM000677.2:g.89831025C>A GRCh38
NC_000015.9:g.90374257C>A , CM000677.1:g.90374257C>A GRCh37
NC_000015.8:g.88175261C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336418.9:c.*4490G>T (AP3S2) MANE Select ENSP00000338777.4:n.*4490G>T
ENST00000336418.8:c.*4490G>T (AP3S2) ENSP00000338777.4:n.*4490G>T
NM_001199058.1:c.*4490G>T (ARPIN-AP3S2) NP_001185987.1:n.*4490G>T
NM_005829.4:c.*4490G>T (AP3S2) NP_005820.1:n.*4490G>T
NR_023361.1:n.5627G>T (AP3S2)
NR_037582.1:n.5504G>T (AP3S2)
NM_005829.5:c.*4490G>T (AP3S2) MANE Select NP_005820.1:n.*4490G>T
NM_001199058.2:c.*4490G>T (ARPIN-AP3S2) NP_001185987.1:n.*4490G>T
NR_023361.2:n.5236G>T (AP3S2)
NR_037582.2:n.5113G>T (AP3S2)
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