Canonical Allele Identifier: CA392014856
Gene: TTBK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42777056C>A , CM000677.2:g.42777056C>A GRCh38
NC_000015.9:g.43069254C>A , CM000677.1:g.43069254C>A GRCh37
NC_000015.8:g.40856546C>A NCBI36
NG_012664.1:g.148754G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000267890.11:c.1384G>T MANE Select ENSP00000267890.6:p.Asp462Tyr
ENST00000267890.10:c.1384G>T ENSP00000267890.6:p.Asp462Tyr
ENST00000567274.5:c.1279G>T ENSP00000457489.1:p.Asp427Tyr
ENST00000567840.5:c.1384G>T ENSP00000455734.1:p.Asp462Tyr
ENST00000622375.4:c.2599G>T ENSP00000479984.1:p.Asp867Tyr
NM_173500.3:c.1384G>T NP_775771.3:p.Asp462Tyr
XM_005254171.3:c.1402G>T XP_005254228.1:p.Asp468Tyr
XM_005254173.3:c.1177G>T XP_005254230.1:p.Asp393Tyr
XM_006720402.2:c.1369G>T XP_006720465.1:p.Asp457Tyr
XM_006720403.2:c.1177G>T XP_006720466.1:p.Asp393Tyr
XM_011521267.1:c.1177G>T XP_011519569.1:p.Asp393Tyr
XM_011521268.1:c.1117G>T XP_011519570.1:p.Asp373Tyr
XM_011521269.1:c.1105G>T XP_011519571.1:p.Asp369Tyr
XM_005254171.5:c.1402G>T XP_005254228.1:p.Asp468Tyr
XM_005254173.5:c.1177G>T XP_005254230.1:p.Asp393Tyr
XM_006720402.4:c.1369G>T XP_006720465.1:p.Asp457Tyr
XM_006720403.4:c.1177G>T XP_006720466.1:p.Asp393Tyr
XM_017021950.2:c.1105G>T XP_016877439.1:p.Asp369Tyr
XM_024449849.1:c.1384G>T XP_024305617.1:p.Asp462Tyr
XM_024449850.1:c.1384G>T XP_024305618.1:p.Asp462Tyr
XM_024449851.1:c.1177G>T XP_024305619.1:p.Asp393Tyr
NM_173500.4:c.1384G>T MANE Select NP_775771.3:p.Asp462Tyr