Canonical Allele Identifier: CA392064896

Gene: TTBK2

Linked Data

• ClinVar Variation Id: 448759
• ClinVar RCV Id: RCV000517102
• dbSNP Id: rs1555418358
• gnomAD v4: 15-42745910-T-C
• MyVariant Identifiers: chr15:g.43038108T>C (hg19) ; chr15:g.42745910T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42745910T>C , CM000677.2:g.42745910T>C	GRCh38
NC_000015.9:g.43038108T>C , CM000677.1:g.43038108T>C	GRCh37
NC_000015.8:g.40825400T>C	NCBI36
NG_012664.1:g.179900A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267890.11:c.3620A>G MANE Select	ENSP00000267890.6:p.Glu1207Gly
ENST00000267890.10:c.3620A>G	ENSP00000267890.6:p.Glu1207Gly
ENST00000622375.4:c.4835A>G	ENSP00000479984.1:p.Glu1612Gly
NM_173500.3:c.3620A>G	NP_775771.3:p.Glu1207Gly
XM_005254171.3:c.3638A>G	XP_005254228.1:p.Glu1213Gly
XM_005254173.3:c.3413A>G	XP_005254230.1:p.Glu1138Gly
XM_006720402.2:c.3605A>G	XP_006720465.1:p.Glu1202Gly
XM_006720403.2:c.3413A>G	XP_006720466.1:p.Glu1138Gly
XM_011521267.1:c.3413A>G	XP_011519569.1:p.Glu1138Gly
XM_011521268.1:c.3353A>G	XP_011519570.1:p.Glu1118Gly
XM_011521269.1:c.3341A>G	XP_011519571.1:p.Glu1114Gly
XM_005254171.5:c.3638A>G	XP_005254228.1:p.Glu1213Gly
XM_005254173.5:c.3413A>G	XP_005254230.1:p.Glu1138Gly
XM_006720402.4:c.3605A>G	XP_006720465.1:p.Glu1202Gly
XM_006720403.4:c.3413A>G	XP_006720466.1:p.Glu1138Gly
XM_017021950.2:c.3341A>G	XP_016877439.1:p.Glu1114Gly
XM_024449849.1:c.3620A>G	XP_024305617.1:p.Glu1207Gly
XM_024449850.1:c.3620A>G	XP_024305618.1:p.Glu1207Gly
XM_024449851.1:c.3413A>G	XP_024305619.1:p.Glu1138Gly
NM_173500.4:c.3620A>G MANE Select	NP_775771.3:p.Glu1207Gly