Canonical Allele Identifier: CA412459053
Gene: AP1S2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.15845963T>A , CM000685.2:g.15845963T>A GRCh38
NC_000023.10:g.15864086T>A , CM000685.1:g.15864086T>A GRCh37
NC_000023.9:g.15774007T>A NCBI36
NG_009274.1:g.14015A>T
NG_009274.2:g.14015A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450644.2:c.228A>T ENSP00000389474.2:p.Glu76Asp
ENST00000479184.2:c.228A>T ENSP00000500850.1:p.Glu76Asp
ENST00000545766.7:c.96A>T ENSP00000444957.3:p.Glu32Asp
ENST00000671830.1:c.228A>T ENSP00000500483.1:p.Glu76Asp
ENST00000672063.1:c.228A>T ENSP00000500737.1:p.Glu76Asp
ENST00000672987.1:c.228A>T MANE Select ENSP00000500695.1:p.Glu76Asp
ENST00000673445.1:c.228A>T ENSP00000500798.1:p.Glu76Asp
ENST00000673591.1:c.228A>T ENSP00000500066.1:p.Glu76Asp
ENST00000329235.6:c.228A>T ENSP00000328789.2:p.Glu76Asp
ENST00000380291.5:c.228A>T ENSP00000369645.1:p.Glu76Asp
ENST00000450644.1:c.206A>T
ENST00000452376.5:c.217A>T
ENST00000545766.5:c.228A>T ENSP00000444957.2:p.Glu76Asp
NM_001272071.1:c.228A>T NP_001259000.1:p.Glu76Asp
NM_003916.4:c.228A>T NP_003907.3:p.Glu76Asp
XM_005274614.3:c.354A>T XP_005274671.1:p.Glu118Asp
XM_011545599.1:c.354A>T XP_011543901.1:p.Glu118Asp
XR_247289.2:n.507A>T
XR_247290.3:n.442A>T
XM_017029925.1:c.354A>T XP_016885414.1:p.Glu118Asp
XM_017029926.2:c.354A>T XP_016885415.1:p.Glu118Asp
XR_001755741.2:n.507A>T
XR_002958809.1:n.278A>T
XR_247289.3:n.507A>T
XR_247290.4:n.507A>T
NM_001272071.2:c.228A>T MANE Select NP_001259000.1:p.Glu76Asp
NM_001368994.1:c.228A>T NP_001355923.1:p.Glu76Asp
NM_001369007.1:c.228A>T NP_001355936.1:p.Glu76Asp
NM_001369008.1:c.228A>T NP_001355937.1:p.Glu76Asp
NM_003916.5:c.228A>T NP_003907.3:p.Glu76Asp
NR_160932.1:n.354A>T
NR_160933.1:n.354A>T