Canonical Allele Identifier: CA16044229
Gene: SYTL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 375385
ClinVar RCV Id: RCV000416462
dbSNP Id: rs1057519445

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.85734436del , CM000673.2:g.85734436del GRCh38
NC_000011.9:g.85445479del , CM000673.1:g.85445479del GRCh37
NC_000011.8:g.85123127del NCBI36
NG_029712.1:g.81700del
NG_029712.2:g.81700del

Transcript Alleles

HGVS Amino-acid change
ENST00000359152.10:c.893del MANE Select ENSP00000352065.7:p.Ser298ThrfsTer8
ENST00000316356.8:c.893del ENSP00000318803.4:p.Ser298ThrfsTer8
ENST00000359152.9:c.893del ENSP00000352065.6:p.Ser298ThrfsTer8
ENST00000389960.8:c.890del ENSP00000374610.4:p.Ser297ThrfsTer8
ENST00000438197.2:n.910del
ENST00000524452.5:c.890del ENSP00000435238.1:p.Ser297ThrfsTer8
ENST00000527523.5:c.746del ENSP00000434010.1:p.Ser249ThrfsTer8
ENST00000528231.5:c.890del ENSP00000431701.1:p.Ser297ThrfsTer8
ENST00000634661.1:c.893del ENSP00000489269.1:p.Ser298ThrfsTer8
NM_001162951.2:c.890del NP_001156423.1:p.Ser297ThrfsTer8
NM_001162953.2:c.893del NP_001156425.1:p.Ser298ThrfsTer8
NM_001289608.1:c.746del NP_001276537.1:p.Ser249ThrfsTer8
NM_032943.4:c.890del NP_116561.1:p.Ser297ThrfsTer8
XM_005274057.1:c.893del XP_005274114.1:p.Ser298ThrfsTer8
XM_005274060.1:c.893del XP_005274117.1:p.Ser298ThrfsTer8
XM_005274061.1:c.890del XP_005274118.1:p.Ser297ThrfsTer8
XM_005274062.1:c.812del XP_005274119.1:p.Ser271ThrfsTer8
XM_005274063.1:c.893del XP_005274120.1:p.Ser298ThrfsTer8
XM_005274066.1:c.890del XP_005274123.1:p.Ser297ThrfsTer8
XM_011545105.1:c.893del XP_011543407.1:p.Ser298ThrfsTer8
XM_011545106.1:c.890del XP_011543408.1:p.Ser297ThrfsTer8
XM_011545107.1:c.812del XP_011543409.1:p.Ser271ThrfsTer8
XM_011545108.1:c.893del XP_011543410.1:p.Ser298ThrfsTer8
XM_011545109.1:c.746del XP_011543411.1:p.Ser249ThrfsTer8
XM_011545110.1:c.893del XP_011543412.1:p.Ser298ThrfsTer8
XM_011545111.1:c.893del XP_011543413.1:p.Ser298ThrfsTer8
XM_011545112.1:c.893del XP_011543414.1:p.Ser298ThrfsTer8
NM_001365826.1:c.893del NP_001352755.1:p.Ser298ThrfsTer8
NM_001365827.1:c.746del NP_001352756.1:p.Ser249ThrfsTer8
NM_206927.3:c.893del NP_996810.2:p.Ser298ThrfsTer8
NM_206928.3:c.890del NP_996811.2:p.Ser297ThrfsTer8
XM_005274062.2:c.812del XP_005274119.1:p.Ser271ThrfsTer8
XM_011545107.2:c.812del XP_011543409.1:p.Ser271ThrfsTer8
XM_011545109.2:c.746del XP_011543411.1:p.Ser249ThrfsTer8
XM_017017934.1:c.809del XP_016873423.1:p.Ser270ThrfsTer8
XM_017017935.1:c.893del XP_016873424.1:p.Ser298ThrfsTer8
XM_017017936.1:c.464del XP_016873425.1:p.Ser155ThrfsTer8
XM_017017937.1:c.668del XP_016873426.1:p.Ser223ThrfsTer8
XR_001747912.1:n.1009del
NM_001162951.3:c.890del NP_001156423.1:p.Ser297ThrfsTer8
NM_001162953.3:c.893del NP_001156425.1:p.Ser298ThrfsTer8
NM_001289608.2:c.746del NP_001276537.1:p.Ser249ThrfsTer8
NM_001365826.2:c.893del NP_001352755.1:p.Ser298ThrfsTer8
NM_001365827.2:c.746del NP_001352756.1:p.Ser249ThrfsTer8
NM_032943.5:c.890del NP_116561.1:p.Ser297ThrfsTer8
NM_206927.4:c.893del MANE Select NP_996810.2:p.Ser298ThrfsTer8
NM_206928.4:c.890del NP_996811.2:p.Ser297ThrfsTer8
NM_001162951.4:c.890del NP_001156423.1:p.Ser297ThrfsTer8
NM_001162953.4:c.893del NP_001156425.1:p.Ser298ThrfsTer8
NM_001394447.1:c.890del NP_001381376.1:p.Ser297ThrfsTer8
NM_001394448.1:c.893del NP_001381377.1:p.Ser298ThrfsTer8
NM_001394449.1:c.893del NP_001381378.1:p.Ser298ThrfsTer8
NM_001394450.1:c.812del NP_001381379.1:p.Ser271ThrfsTer8
NM_001394451.1:c.809del NP_001381380.1:p.Ser270ThrfsTer8
NM_001394452.1:c.893del NP_001381381.1:p.Ser298ThrfsTer8
NM_001394453.1:c.893del NP_001381382.1:p.Ser298ThrfsTer8
NM_001394454.1:c.893del NP_001381383.1:p.Ser298ThrfsTer8
NM_001394455.1:c.890del NP_001381384.1:p.Ser297ThrfsTer8
NM_001394456.1:c.890del NP_001381385.1:p.Ser297ThrfsTer8
NM_001394457.1:c.890del NP_001381386.1:p.Ser297ThrfsTer8
NM_001394458.1:c.890del NP_001381387.1:p.Ser297ThrfsTer8
NM_001394459.1:c.890del NP_001381388.1:p.Ser297ThrfsTer8
NM_001394460.1:c.812del NP_001381389.1:p.Ser271ThrfsTer8
NM_001394461.1:c.809del NP_001381390.1:p.Ser270ThrfsTer8
NM_001394462.1:c.812del NP_001381391.1:p.Ser271ThrfsTer8
NM_001394464.1:c.809del NP_001381393.1:p.Ser270ThrfsTer8
NM_001394465.1:c.890del NP_001381394.1:p.Ser297ThrfsTer8
NM_001394466.1:c.746del NP_001381395.1:p.Ser249ThrfsTer8
NM_001394467.1:c.812del NP_001381396.1:p.Ser271ThrfsTer8
NM_001394468.1:c.809del NP_001381397.1:p.Ser270ThrfsTer8
NM_001394469.1:c.668del NP_001381398.1:p.Ser223ThrfsTer8
NM_001394470.1:c.890del NP_001381399.1:p.Ser297ThrfsTer8
NM_001394471.1:c.812del NP_001381400.1:p.Ser271ThrfsTer8
NM_001394472.1:c.812del NP_001381401.1:p.Ser271ThrfsTer8
NM_001394473.1:c.812del NP_001381402.1:p.Ser271ThrfsTer8