Canonical Allele Identifier: CA14089463

Gene: AP3S2 ARPIN-AP3S2

Linked Data

• dbSNP Id: rs2028299
• gnomAD v2: 15-90374257-C-A
• gnomAD v3: 15-89831025-C-A
• gnomAD v4: 15-89831025-C-A
• MyVariant Identifiers: chr15:g.90374257C>A (hg19) ; chr15:g.89831025C>A (hg38)

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)