Canonical Allele Identifier: CA2738336458

Gene: AP1S2

Linked Data

• dbSNP Id: rs2147319178

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15845884A>G , CM000685.2:g.15845884A>G	GRCh38
NC_000023.10:g.15864007A>G , CM000685.1:g.15864007A>G	GRCh37
NC_000023.9:g.15773928A>G	NCBI36
NG_009274.1:g.14094T>C
NG_009274.2:g.14094T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000450644.2:c.288+19T>C	ENSP00000389474.2:n.288+19T>C
ENST00000479184.2:c.288+19T>C	ENSP00000500850.1:n.288+19T>C
ENST00000545766.7:c.156+19T>C	ENSP00000444957.3:n.156+19T>C
ENST00000671830.1:c.288+19T>C	ENSP00000500483.1:n.288+19T>C
ENST00000672063.1:c.288+19T>C	ENSP00000500737.1:n.288+19T>C
ENST00000672987.1:c.288+19T>C MANE Select	ENSP00000500695.1:n.288+19T>C
ENST00000673445.1:c.288+19T>C	ENSP00000500798.1:n.288+19T>C
ENST00000673591.1:c.288+19T>C	ENSP00000500066.1:n.288+19T>C
ENST00000329235.6:c.288+19T>C	ENSP00000328789.2:n.288+19T>C
ENST00000380291.5:c.288+19T>C	ENSP00000369645.1:n.288+19T>C
ENST00000450644.1:c.266+19T>C
ENST00000452376.5:c.277+19T>C
ENST00000545766.5:c.288+19T>C	ENSP00000444957.2:n.288+19T>C
NM_001272071.1:c.288+19T>C	NP_001259000.1:n.288+19T>C
NM_003916.4:c.288+19T>C	NP_003907.3:n.288+19T>C
XM_005274614.3:c.414+19T>C	XP_005274671.1:n.414+19T>C
XM_011545599.1:c.414+19T>C	XP_011543901.1:n.414+19T>C
XR_247289.2:n.567+19T>C
XR_247290.3:n.502+19T>C
XM_017029925.1:c.414+19T>C	XP_016885414.1:n.414+19T>C
XM_017029926.2:c.414+19T>C	XP_016885415.1:n.414+19T>C
XR_001755741.2:n.567+19T>C
XR_002958809.1:n.338+19T>C
XR_247289.3:n.567+19T>C
XR_247290.4:n.567+19T>C
NM_001272071.2:c.288+19T>C MANE Select	NP_001259000.1:n.288+19T>C
NM_001368994.1:c.288+19T>C	NP_001355923.1:n.288+19T>C
NM_001369007.1:c.288+19T>C	NP_001355936.1:n.288+19T>C
NM_001369008.1:c.288+19T>C	NP_001355937.1:n.288+19T>C
NM_003916.5:c.288+19T>C	NP_003907.3:n.288+19T>C
NR_160932.1:n.414+19T>C
NR_160933.1:n.414+19T>C