Canonical Allele Identifier: CA392014479
Gene: TTBK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42777015A>C , CM000677.2:g.42777015A>C GRCh38
NC_000015.9:g.43069213A>C , CM000677.1:g.43069213A>C GRCh37
NC_000015.8:g.40856505A>C NCBI36
NG_012664.1:g.148795T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000267890.11:c.1409+16T>G MANE Select ENSP00000267890.6:n.1409+16T>G
ENST00000267890.10:c.1409+16T>G ENSP00000267890.6:n.1409+16T>G
ENST00000567274.5:c.1320T>G ENSP00000457489.1:p.Tyr440Ter
ENST00000567840.5:c.1425T>G ENSP00000455734.1:p.Tyr475Ter
ENST00000622375.4:c.2624+16T>G ENSP00000479984.1:n.2624+16T>G
NM_173500.3:c.1409+16T>G NP_775771.3:n.1409+16T>G
XM_005254171.3:c.1427+16T>G XP_005254228.1:n.1427+16T>G
XM_005254173.3:c.1202+16T>G XP_005254230.1:n.1202+16T>G
XM_006720402.2:c.1394+16T>G XP_006720465.1:n.1394+16T>G
XM_006720403.2:c.1202+16T>G XP_006720466.1:n.1202+16T>G
XM_011521267.1:c.1202+16T>G XP_011519569.1:n.1202+16T>G
XM_011521268.1:c.1142+16T>G XP_011519570.1:n.1142+16T>G
XM_011521269.1:c.1130+16T>G XP_011519571.1:n.1130+16T>G
XM_005254171.5:c.1427+16T>G XP_005254228.1:n.1427+16T>G
XM_005254173.5:c.1202+16T>G XP_005254230.1:n.1202+16T>G
XM_006720402.4:c.1394+16T>G XP_006720465.1:n.1394+16T>G
XM_006720403.4:c.1202+16T>G XP_006720466.1:n.1202+16T>G
XM_017021950.2:c.1130+16T>G XP_016877439.1:n.1130+16T>G
XM_024449849.1:c.1409+16T>G XP_024305617.1:n.1409+16T>G
XM_024449850.1:c.1409+16T>G XP_024305618.1:n.1409+16T>G
XM_024449851.1:c.1202+16T>G XP_024305619.1:n.1202+16T>G
NM_173500.4:c.1409+16T>G MANE Select NP_775771.3:n.1409+16T>G