Canonical Allele Identifier: CA7516527

Gene: TTBK2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42745861G>A , CM000677.2:g.42745861G>A	GRCh38
NC_000015.9:g.43038059G>A , CM000677.1:g.43038059G>A	GRCh37
NC_000015.8:g.40825351G>A	NCBI36
NG_012664.1:g.179949C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_173500.4:c.3669C>T MANE Select	NP_775771.3:p.His1223=
ENST00000267890.11:c.3669C>T MANE Select	ENSP00000267890.6:p.His1223=
NM_173500.3:c.3669C>T	NP_775771.3:p.His1223=
ENST00000267890.10:c.3669C>T	ENSP00000267890.6:p.His1223=
ENST00000622375.4:c.4884C>T	ENSP00000479984.1:p.His1628=
XM_005254171.3:c.3687C>T	XP_005254228.1:p.His1229=
XM_005254171.5:c.3687C>T	XP_005254228.1:p.His1229=
XM_005254173.3:c.3462C>T	XP_005254230.1:p.His1154=
XM_005254173.5:c.3462C>T	XP_005254230.1:p.His1154=
XM_006720402.2:c.3654C>T	XP_006720465.1:p.His1218=
XM_006720402.4:c.3654C>T	XP_006720465.1:p.His1218=
XM_006720403.2:c.3462C>T	XP_006720466.1:p.His1154=
XM_006720403.4:c.3462C>T	XP_006720466.1:p.His1154=
XM_011521267.1:c.3462C>T	XP_011519569.1:p.His1154=
XM_011521268.1:c.3402C>T	XP_011519570.1:p.His1134=
XM_011521269.1:c.3390C>T	XP_011519571.1:p.His1130=
XM_017021950.2:c.3390C>T	XP_016877439.1:p.His1130=
XM_024449849.1:c.3669C>T	XP_024305617.1:p.His1223=
XM_024449850.1:c.3669C>T	XP_024305618.1:p.His1223=
XM_024449851.1:c.3462C>T	XP_024305619.1:p.His1154=