Canonical Allele Identifier: CA392052377

Gene: TTBK2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42830048G>A , CM000677.2:g.42830048G>A	GRCh38
NC_000015.9:g.43122246G>A , CM000677.1:g.43122246G>A	GRCh37
NC_000015.8:g.40909538G>A	NCBI36
NG_012664.1:g.95762C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_173500.4:c.322C>T MANE Select	NP_775771.3:p.Gln108Ter
ENST00000267890.11:c.322C>T MANE Select	ENSP00000267890.6:p.Gln108Ter
NM_173500.3:c.322C>T	NP_775771.3:p.Gln108Ter
ENST00000267890.10:c.322C>T	ENSP00000267890.6:p.Gln108Ter
ENST00000562880.5:c.322C>T	ENSP00000457385.1:p.Gln108Ter
ENST00000564431.5:c.186C>T	ENSP00000455574.1:p.Ala62=
ENST00000566931.1:c.174C>T	ENSP00000454605.1:p.Ala58=
ENST00000567274.5:c.322C>T	ENSP00000457489.1:p.Gln108Ter
ENST00000567840.5:c.322C>T	ENSP00000455734.1:p.Gln108Ter
ENST00000622375.4:c.262C>T	ENSP00000479984.1:p.Gln88Ter
XM_005254171.3:c.340C>T	XP_005254228.1:p.Gln114Ter
XM_005254171.5:c.340C>T	XP_005254228.1:p.Gln114Ter
XM_005254173.3:c.115C>T	XP_005254230.1:p.Gln39Ter
XM_005254173.5:c.115C>T	XP_005254230.1:p.Gln39Ter
XM_006720402.2:c.307C>T	XP_006720465.1:p.Gln103Ter
XM_006720402.4:c.307C>T	XP_006720465.1:p.Gln103Ter
XM_006720403.2:c.115C>T	XP_006720466.1:p.Gln39Ter
XM_006720403.4:c.115C>T	XP_006720466.1:p.Gln39Ter
XM_011521267.1:c.115C>T	XP_011519569.1:p.Gln39Ter
XM_011521268.1:c.340C>T	XP_011519570.1:p.Gln114Ter
XM_011521269.1:c.43C>T	XP_011519571.1:p.Gln15Ter
XM_017021950.2:c.43C>T	XP_016877439.1:p.Gln15Ter
XM_024449849.1:c.322C>T	XP_024305617.1:p.Gln108Ter
XM_024449850.1:c.322C>T	XP_024305618.1:p.Gln108Ter
XM_024449851.1:c.115C>T	XP_024305619.1:p.Gln39Ter