Canonical Allele Identifier: CA130283

Gene: AP2S1

Linked Data

• ClinVar Variation Id: 39426
• ClinVar RCV Id: RCV000032621 ; RCV000520417
• dbSNP Id: rs397514499
• gnomAD v4: 19-46846102-C-T
• MyVariant Identifiers: chr19:g.47349359C>T (hg19) ; chr19:g.46846102C>T (hg38)
• PubMed: PMID:23222959

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46846102C>T , CM000681.2:g.46846102C>T	GRCh38
NC_000019.9:g.47349359C>T , CM000681.1:g.47349359C>T	GRCh37
NC_000019.8:g.52041199C>T	NCBI36
NG_033136.1:g.9845G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263270.11:c.44G>A MANE Select	ENSP00000263270.6:p.Arg15His
ENST00000263270.10:c.44G>A	ENSP00000263270.5:p.Arg15His
ENST00000352203.8:c.44G>A	ENSP00000263271.6:p.Arg15His
ENST00000593442.5:c.3+4662G>A	ENSP00000472080.1:n.3+4662G>A
ENST00000597020.5:c.-17G>A	ENSP00000470235.1:n.-17G>A
ENST00000597421.1:n.103G>A
ENST00000599990.5:c.50G>A	ENSP00000471340.1:p.Arg17His
ENST00000601498.5:c.92G>A	ENSP00000470176.1:p.Arg31His
ENST00000601649.1:c.44G>A	ENSP00000470898.1:p.Arg15His
NM_001301076.1:c.92G>A	NP_001288005.1:p.Arg31His
NM_001301078.1:c.44G>A	NP_001288007.1:p.Arg15His
NM_001301081.1:c.50G>A	NP_001288010.1:p.Arg17His
NM_004069.4:c.44G>A	NP_004060.2:p.Arg15His
NM_021575.3:c.44G>A	NP_067586.1:p.Arg15His
XM_011526423.1:c.92G>A	XP_011524725.1:p.Arg31His
XM_011526424.1:c.50G>A	XP_011524726.1:p.Arg17His
XM_011526423.2:c.92G>A	XP_011524725.1:p.Arg31His
XM_011526424.3:c.50G>A	XP_011524726.1:p.Arg17His
NM_001301076.2:c.92G>A	NP_001288005.1:p.Arg31His
NM_001301078.2:c.44G>A	NP_001288007.1:p.Arg15His
NM_001301081.2:c.50G>A	NP_001288010.1:p.Arg17His
NM_004069.6:c.44G>A MANE Select	NP_004060.2:p.Arg15His
NM_021575.4:c.44G>A	NP_067586.1:p.Arg15His
NM_001301076.3:c.92G>A	NP_001288005.1:p.Arg31His
NM_001301078.3:c.44G>A	NP_001288007.1:p.Arg15His
NM_001301081.3:c.50G>A	NP_001288010.1:p.Arg17His
NM_021575.5:c.44G>A	NP_067586.1:p.Arg15His