Canonical Allele Identifier: CA121164
Gene: AP1S2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10778
dbSNP Id: rs104894735

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.15852371G>A , CM000685.2:g.15852371G>A GRCh38
NC_000023.9:g.15780415G>A NCBI36
NC_000023.10:g.15870494G>A , CM000685.1:g.15870494G>A GRCh37
NG_009274.1:g.7607C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000329235.6:c.154C>T ENSP00000328789.2:p.Arg52Ter
ENST00000380291.5:c.154C>T ENSP00000369645.1:p.Arg52Ter
ENST00000450644.1:n.132C>T
ENST00000452376.5:n.143C>T
ENST00000545766.5:c.154C>T ENSP00000444957.2:p.Arg52Ter
NM_001272071.1:c.154C>T VV NP_001259000.1:p.Arg52Ter
NM_003916.4:c.154C>T VV NP_003907.3:p.Arg52Ter
XM_005274614.3:c.280C>T XP_005274671.1:p.Arg94Ter
XM_011545599.1:c.280C>T XP_011543901.1:p.Arg94Ter
XR_247289.2:n.433C>T
XR_247290.3:n.368C>T
XM_017029925.1:c.280C>T XP_016885414.1:p.Arg94Ter
XM_017029926.2:c.280C>T XP_016885415.1:p.Arg94Ter
XR_001755741.2:n.433C>T
XR_002958809.1:n.204C>T
XR_247289.3:n.433C>T
XR_247290.4:n.433C>T