Canonical Allele Identifier: CA392075959

Gene: TTBK2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42753139C>T , CM000677.2:g.42753139C>T	GRCh38
NC_000015.9:g.43045337C>T , CM000677.1:g.43045337C>T	GRCh37
NC_000015.8:g.40832629C>T	NCBI36
NG_012664.1:g.172671G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_173500.4:c.2107G>A MANE Select	NP_775771.3:p.Glu703Lys
ENST00000267890.11:c.2107G>A MANE Select	ENSP00000267890.6:p.Glu703Lys
NM_173500.3:c.2107G>A	NP_775771.3:p.Glu703Lys
ENST00000267890.10:c.2107G>A	ENSP00000267890.6:p.Glu703Lys
ENST00000622375.4:c.3322G>A	ENSP00000479984.1:p.Glu1108Lys
XM_005254171.3:c.2125G>A	XP_005254228.1:p.Glu709Lys
XM_005254171.5:c.2125G>A	XP_005254228.1:p.Glu709Lys
XM_005254173.3:c.1900G>A	XP_005254230.1:p.Glu634Lys
XM_005254173.5:c.1900G>A	XP_005254230.1:p.Glu634Lys
XM_006720402.2:c.2092G>A	XP_006720465.1:p.Glu698Lys
XM_006720402.4:c.2092G>A	XP_006720465.1:p.Glu698Lys
XM_006720403.2:c.1900G>A	XP_006720466.1:p.Glu634Lys
XM_006720403.4:c.1900G>A	XP_006720466.1:p.Glu634Lys
XM_011521267.1:c.1900G>A	XP_011519569.1:p.Glu634Lys
XM_011521268.1:c.1840G>A	XP_011519570.1:p.Glu614Lys
XM_011521269.1:c.1828G>A	XP_011519571.1:p.Glu610Lys
XM_017021950.2:c.1828G>A	XP_016877439.1:p.Glu610Lys
XM_024449849.1:c.2107G>A	XP_024305617.1:p.Glu703Lys
XM_024449850.1:c.2107G>A	XP_024305618.1:p.Glu703Lys
XM_024449851.1:c.1900G>A	XP_024305619.1:p.Glu634Lys