Canonical Allele Identifier: CA7516920

Gene: TTBK2

Linked Data

• ClinVar Variation Id: 2981204
• ClinVar RCV Id: RCV003832346
• dbSNP Id: rs775362114
• ExAC: 15:43069358 C / T
• gnomAD v2: 15-43069358-C-T
• gnomAD v3: 15-42777160-C-T
• gnomAD v4: 15-42777160-C-T
• MyVariant Identifiers: chr15:g.43069358C>T (hg19) ; chr15:g.42777160C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42777160C>T , CM000677.2:g.42777160C>T	GRCh38
NC_000015.9:g.43069358C>T , CM000677.1:g.43069358C>T	GRCh37
NC_000015.8:g.40856650C>T	NCBI36
NG_012664.1:g.148650G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000267890.11:c.1280G>A MANE Select	ENSP00000267890.6:p.Arg427His
ENST00000267890.10:c.1280G>A	ENSP00000267890.6:p.Arg427His
ENST00000567274.5:c.1175G>A	ENSP00000457489.1:p.Arg392His
ENST00000567840.5:c.1280G>A	ENSP00000455734.1:p.Arg427His
ENST00000622375.4:c.2495G>A	ENSP00000479984.1:p.Arg832His
NM_173500.3:c.1280G>A	NP_775771.3:p.Arg427His
XM_005254171.3:c.1298G>A	XP_005254228.1:p.Arg433His
XM_005254173.3:c.1073G>A	XP_005254230.1:p.Arg358His
XM_006720402.2:c.1265G>A	XP_006720465.1:p.Arg422His
XM_006720403.2:c.1073G>A	XP_006720466.1:p.Arg358His
XM_011521267.1:c.1073G>A	XP_011519569.1:p.Arg358His
XM_011521268.1:c.1013G>A	XP_011519570.1:p.Arg338His
XM_011521269.1:c.1001G>A	XP_011519571.1:p.Arg334His
XM_005254171.5:c.1298G>A	XP_005254228.1:p.Arg433His
XM_005254173.5:c.1073G>A	XP_005254230.1:p.Arg358His
XM_006720402.4:c.1265G>A	XP_006720465.1:p.Arg422His
XM_006720403.4:c.1073G>A	XP_006720466.1:p.Arg358His
XM_017021950.2:c.1001G>A	XP_016877439.1:p.Arg334His
XM_024449849.1:c.1280G>A	XP_024305617.1:p.Arg427His
XM_024449850.1:c.1280G>A	XP_024305618.1:p.Arg427His
XM_024449851.1:c.1073G>A	XP_024305619.1:p.Arg358His
NM_173500.4:c.1280G>A MANE Select	NP_775771.3:p.Arg427His