Canonical Allele Identifier: CA7517532

Gene: TTBK2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42840412A>T , CM000677.2:g.42840412A>T	GRCh38
NC_000015.9:g.43132610A>T , CM000677.1:g.43132610A>T	GRCh37
NC_000015.8:g.40919902A>T	NCBI36
NG_012664.1:g.85398T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_173500.4:c.239T>A MANE Select	NP_775771.3:p.Phe80Tyr
ENST00000267890.11:c.239T>A MANE Select	ENSP00000267890.6:p.Phe80Tyr
NM_173500.3:c.239T>A	NP_775771.3:p.Phe80Tyr
ENST00000267890.10:c.239T>A	ENSP00000267890.6:p.Phe80Tyr
ENST00000562880.5:c.239T>A	ENSP00000457385.1:p.Phe80Tyr
ENST00000564431.5:c.156-10334T>A	ENSP00000455574.1:n.156-10334T>A
ENST00000566931.1:c.91T>A	ENSP00000454605.1:p.Leu31Ile
ENST00000567274.5:c.239T>A	ENSP00000457489.1:p.Phe80Tyr
ENST00000567840.5:c.239T>A	ENSP00000455734.1:p.Phe80Tyr
ENST00000622375.4:c.179T>A	ENSP00000479984.1:p.Phe60Tyr
XM_005254171.3:c.257T>A	XP_005254228.1:p.Phe86Tyr
XM_005254171.5:c.257T>A	XP_005254228.1:p.Phe86Tyr
XM_005254173.3:c.32T>A	XP_005254230.1:p.Phe11Tyr
XM_005254173.5:c.32T>A	XP_005254230.1:p.Phe11Tyr
XM_006720402.2:c.224T>A	XP_006720465.1:p.Phe75Tyr
XM_006720402.4:c.224T>A	XP_006720465.1:p.Phe75Tyr
XM_006720403.2:c.32T>A	XP_006720466.1:p.Phe11Tyr
XM_006720403.4:c.32T>A	XP_006720466.1:p.Phe11Tyr
XM_011521267.1:c.32T>A	XP_011519569.1:p.Phe11Tyr
XM_011521268.1:c.257T>A	XP_011519570.1:p.Phe86Tyr
XM_011521269.1:c.-41T>A	XP_011519571.1:n.-41T>A
XM_017021950.2:c.-41T>A	XP_016877439.1:n.-41T>A
XM_024449849.1:c.239T>A	XP_024305617.1:p.Phe80Tyr
XM_024449850.1:c.239T>A	XP_024305618.1:p.Phe80Tyr
XM_024449851.1:c.32T>A	XP_024305619.1:p.Phe11Tyr