Canonical Allele Identifier: CA7516595

Gene: TTBK2

Linked Data

• ClinVar Variation Id: 71891
• ClinVar RCV Id: RCV000516940 ; RCV001119904 ; RCV002054917 ; RCV003905032
• dbSNP Id: rs146279300
• ExAC: 15:43038399 C / T
• gnomAD v2: 15-43038399-C-T
• gnomAD v3: 15-42746201-C-T
• gnomAD v4: 15-42746201-C-T
• COSMIC: COSM109543
• MyVariant Identifiers: chr15:g.43038399C>T (hg19) ; chr15:g.42746201C>T (hg38)
• PubMed: PMID:19533200

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42746201C>T , CM000677.2:g.42746201C>T	GRCh38
NC_000015.9:g.43038399C>T , CM000677.1:g.43038399C>T	GRCh37
NC_000015.8:g.40825691C>T	NCBI36
NG_012664.1:g.179609G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267890.11:c.3329G>A MANE Select	ENSP00000267890.6:p.Arg1110His
ENST00000267890.10:c.3329G>A	ENSP00000267890.6:p.Arg1110His
ENST00000622375.4:c.4544G>A	ENSP00000479984.1:p.Arg1515His
NM_173500.3:c.3329G>A	NP_775771.3:p.Arg1110His
XM_005254171.3:c.3347G>A	XP_005254228.1:p.Arg1116His
XM_005254173.3:c.3122G>A	XP_005254230.1:p.Arg1041His
XM_006720402.2:c.3314G>A	XP_006720465.1:p.Arg1105His
XM_006720403.2:c.3122G>A	XP_006720466.1:p.Arg1041His
XM_011521267.1:c.3122G>A	XP_011519569.1:p.Arg1041His
XM_011521268.1:c.3062G>A	XP_011519570.1:p.Arg1021His
XM_011521269.1:c.3050G>A	XP_011519571.1:p.Arg1017His
XM_005254171.5:c.3347G>A	XP_005254228.1:p.Arg1116His
XM_005254173.5:c.3122G>A	XP_005254230.1:p.Arg1041His
XM_006720402.4:c.3314G>A	XP_006720465.1:p.Arg1105His
XM_006720403.4:c.3122G>A	XP_006720466.1:p.Arg1041His
XM_017021950.2:c.3050G>A	XP_016877439.1:p.Arg1017His
XM_024449849.1:c.3329G>A	XP_024305617.1:p.Arg1110His
XM_024449850.1:c.3329G>A	XP_024305618.1:p.Arg1110His
XM_024449851.1:c.3122G>A	XP_024305619.1:p.Arg1041His
NM_173500.4:c.3329G>A MANE Select	NP_775771.3:p.Arg1110His