Canonical Allele Identifier: CA392015336
Gene: TTBK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42777112A>T , CM000677.2:g.42777112A>T GRCh38
NC_000015.9:g.43069310A>T , CM000677.1:g.43069310A>T GRCh37
NC_000015.8:g.40856602A>T NCBI36
NG_012664.1:g.148698T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000267890.11:c.1328T>A MANE Select ENSP00000267890.6:p.Leu443Ter
ENST00000267890.10:c.1328T>A ENSP00000267890.6:p.Leu443Ter
ENST00000567274.5:c.1223T>A ENSP00000457489.1:p.Leu408Ter
ENST00000567840.5:c.1328T>A ENSP00000455734.1:p.Leu443Ter
ENST00000622375.4:c.2543T>A ENSP00000479984.1:p.Leu848Ter
NM_173500.3:c.1328T>A NP_775771.3:p.Leu443Ter
XM_005254171.3:c.1346T>A XP_005254228.1:p.Leu449Ter
XM_005254173.3:c.1121T>A XP_005254230.1:p.Leu374Ter
XM_006720402.2:c.1313T>A XP_006720465.1:p.Leu438Ter
XM_006720403.2:c.1121T>A XP_006720466.1:p.Leu374Ter
XM_011521267.1:c.1121T>A XP_011519569.1:p.Leu374Ter
XM_011521268.1:c.1061T>A XP_011519570.1:p.Leu354Ter
XM_011521269.1:c.1049T>A XP_011519571.1:p.Leu350Ter
XM_005254171.5:c.1346T>A XP_005254228.1:p.Leu449Ter
XM_005254173.5:c.1121T>A XP_005254230.1:p.Leu374Ter
XM_006720402.4:c.1313T>A XP_006720465.1:p.Leu438Ter
XM_006720403.4:c.1121T>A XP_006720466.1:p.Leu374Ter
XM_017021950.2:c.1049T>A XP_016877439.1:p.Leu350Ter
XM_024449849.1:c.1328T>A XP_024305617.1:p.Leu443Ter
XM_024449850.1:c.1328T>A XP_024305618.1:p.Leu443Ter
XM_024449851.1:c.1121T>A XP_024305619.1:p.Leu374Ter
NM_173500.4:c.1328T>A MANE Select NP_775771.3:p.Leu443Ter