Canonical Allele Identifier: CA339837
Gene: TTBK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 848
ClinVar RCV Id: RCV000000896
dbSNP Id: rs80356539
MyVariant Identifiers: chr15:g.43069353_43069354del (hg19) chr15:g.42777155_42777156del (hg38)
PubMed: PMID:18037885 PMID:20301723
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42777155_42777156del , CM000677.2:g.42777155_42777156del GRCh38
NC_000015.9:g.43069353_43069354del , CM000677.1:g.43069353_43069354del GRCh37
NC_000015.8:g.40856645_40856646del NCBI36
NG_012664.1:g.148657_148658del

Transcript Alleles

HGVS Amino-acid change
ENST00000267890.11:c.1287_1288del MANE Select ENSP00000267890.6:p.Glu429AspfsTer21
ENST00000267890.10:c.1287_1288del ENSP00000267890.6:p.Glu429AspfsTer21
ENST00000567274.5:c.1182_1183del ENSP00000457489.1:p.Glu394AspfsTer21
ENST00000567840.5:c.1287_1288del ENSP00000455734.1:p.Glu429AspfsTer21
ENST00000622375.4:c.2502_2503del ENSP00000479984.1:p.Glu834AspfsTer21
NM_173500.3:c.1287_1288del NP_775771.3:p.Glu429AspfsTer21
XM_005254171.3:c.1305_1306del XP_005254228.1:p.Glu435AspfsTer21
XM_005254173.3:c.1080_1081del XP_005254230.1:p.Glu360AspfsTer21
XM_006720402.2:c.1272_1273del XP_006720465.1:p.Glu424AspfsTer21
XM_006720403.2:c.1080_1081del XP_006720466.1:p.Glu360AspfsTer21
XM_011521267.1:c.1080_1081del XP_011519569.1:p.Glu360AspfsTer21
XM_011521268.1:c.1020_1021del XP_011519570.1:p.Glu340AspfsTer21
XM_011521269.1:c.1008_1009del XP_011519571.1:p.Glu336AspfsTer21
XM_005254171.5:c.1305_1306del XP_005254228.1:p.Glu435AspfsTer21
XM_005254173.5:c.1080_1081del XP_005254230.1:p.Glu360AspfsTer21
XM_006720402.4:c.1272_1273del XP_006720465.1:p.Glu424AspfsTer21
XM_006720403.4:c.1080_1081del XP_006720466.1:p.Glu360AspfsTer21
XM_017021950.2:c.1008_1009del XP_016877439.1:p.Glu336AspfsTer21
XM_024449849.1:c.1287_1288del XP_024305617.1:p.Glu429AspfsTer21
XM_024449850.1:c.1287_1288del XP_024305618.1:p.Glu429AspfsTer21
XM_024449851.1:c.1080_1081del XP_024305619.1:p.Glu360AspfsTer21
NM_173500.4:c.1287_1288del MANE Select NP_775771.3:p.Glu429AspfsTer21
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