Canonical Allele Identifier: CA7516970

Gene: TTBK2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42783516T>A , CM000677.2:g.42783516T>A	GRCh38
NC_000015.9:g.43075714T>A , CM000677.1:g.43075714T>A	GRCh37
NC_000015.8:g.40863006T>A	NCBI36
NG_012664.1:g.142294A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_173500.4:c.1100A>T MANE Select	NP_775771.3:p.Lys367Ile
ENST00000267890.11:c.1100A>T MANE Select	ENSP00000267890.6:p.Lys367Ile
NM_173500.3:c.1100A>T	NP_775771.3:p.Lys367Ile
ENST00000267890.10:c.1100A>T	ENSP00000267890.6:p.Lys367Ile
ENST00000567274.5:c.995A>T	ENSP00000457489.1:p.Lys332Ile
ENST00000567840.5:c.1100A>T	ENSP00000455734.1:p.Lys367Ile
ENST00000622375.4:c.2315A>T	ENSP00000479984.1:p.Lys772Ile
XM_005254171.3:c.1118A>T	XP_005254228.1:p.Lys373Ile
XM_005254171.5:c.1118A>T	XP_005254228.1:p.Lys373Ile
XM_005254173.3:c.893A>T	XP_005254230.1:p.Lys298Ile
XM_005254173.5:c.893A>T	XP_005254230.1:p.Lys298Ile
XM_006720402.2:c.1085A>T	XP_006720465.1:p.Lys362Ile
XM_006720402.4:c.1085A>T	XP_006720465.1:p.Lys362Ile
XM_006720403.2:c.893A>T	XP_006720466.1:p.Lys298Ile
XM_006720403.4:c.893A>T	XP_006720466.1:p.Lys298Ile
XM_011521267.1:c.893A>T	XP_011519569.1:p.Lys298Ile
XM_011521268.1:c.833A>T	XP_011519570.1:p.Lys278Ile
XM_011521269.1:c.821A>T	XP_011519571.1:p.Lys274Ile
XM_017021950.2:c.821A>T	XP_016877439.1:p.Lys274Ile
XM_024449849.1:c.1100A>T	XP_024305617.1:p.Lys367Ile
XM_024449850.1:c.1100A>T	XP_024305618.1:p.Lys367Ile
XM_024449851.1:c.893A>T	XP_024305619.1:p.Lys298Ile