Canonical Allele Identifier: CA121168
Gene: AP1S2 HGNC NCBI

Linked Data

ClinVar Variation Id: 10781
ClinVar RCV Id: RCV000011528
dbSNP Id: rs137852213

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.15845965C>A , CM000685.2:g.15845965C>A GRCh38
NC_000023.10:g.15864088C>A , CM000685.1:g.15864088C>A GRCh37
NC_000023.9:g.15774009C>A NCBI36
NG_009274.1:g.14013G>T
NG_009274.2:g.14013G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450644.2:c.226G>T ENSP00000389474.2:p.Glu76Ter
ENST00000479184.2:c.226G>T ENSP00000500850.1:p.Glu76Ter
ENST00000545766.7:c.94G>T ENSP00000444957.3:p.Glu32Ter
ENST00000671830.1:c.226G>T ENSP00000500483.1:p.Glu76Ter
ENST00000672063.1:c.226G>T ENSP00000500737.1:p.Glu76Ter
ENST00000672987.1:c.226G>T MANE Select ENSP00000500695.1:p.Glu76Ter
ENST00000673445.1:c.226G>T ENSP00000500798.1:p.Glu76Ter
ENST00000673591.1:c.226G>T ENSP00000500066.1:p.Glu76Ter
ENST00000329235.6:c.226G>T ENSP00000328789.2:p.Glu76Ter
ENST00000380291.5:c.226G>T ENSP00000369645.1:p.Glu76Ter
ENST00000450644.1:c.204G>T
ENST00000452376.5:c.215G>T
ENST00000545766.5:c.226G>T ENSP00000444957.2:p.Glu76Ter
NM_001272071.1:c.226G>T NP_001259000.1:p.Glu76Ter
NM_003916.4:c.226G>T NP_003907.3:p.Glu76Ter
XM_005274614.3:c.352G>T XP_005274671.1:p.Glu118Ter
XM_011545599.1:c.352G>T XP_011543901.1:p.Glu118Ter
XR_247289.2:n.505G>T
XR_247290.3:n.440G>T
XM_017029925.1:c.352G>T XP_016885414.1:p.Glu118Ter
XM_017029926.2:c.352G>T XP_016885415.1:p.Glu118Ter
XR_001755741.2:n.505G>T
XR_002958809.1:n.276G>T
XR_247289.3:n.505G>T
XR_247290.4:n.505G>T
NM_001272071.2:c.226G>T MANE Select NP_001259000.1:p.Glu76Ter
NM_001368994.1:c.226G>T NP_001355923.1:p.Glu76Ter
NM_001369007.1:c.226G>T NP_001355936.1:p.Glu76Ter
NM_001369008.1:c.226G>T NP_001355937.1:p.Glu76Ter
NM_003916.5:c.226G>T NP_003907.3:p.Glu76Ter
NR_160932.1:n.352G>T
NR_160933.1:n.352G>T