Canonical Allele Identifier: CA155836

Gene: TTBK2

Linked Data

• ClinVar Variation Id: 130646
• ClinVar RCV Id: RCV000118718 ; RCV000989295 ; RCV000993251
• dbSNP Id: rs6493068
• ExAC: 15:43170793 A / G
• gnomAD v2: 15-43170793-A-G
• gnomAD v3: 15-42878595-A-G
• gnomAD v4: 15-42878595-A-G
• MyVariant Identifiers: chr15:g.43170793A>G (hg19) ; chr15:g.42878595A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42878595A>G , CM000677.2:g.42878595A>G	GRCh38
NC_000015.9:g.43170793A>G , CM000677.1:g.43170793A>G	GRCh37
NC_000015.8:g.40958085A>G	NCBI36
NG_012664.1:g.47215T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000267890.11:c.23T>C MANE Select	ENSP00000267890.6:p.Leu8Pro
ENST00000267890.10:c.23T>C	ENSP00000267890.6:p.Leu8Pro
ENST00000562880.5:c.23T>C	ENSP00000457385.1:p.Leu8Pro
ENST00000564431.5:c.23T>C	ENSP00000455574.1:p.Leu8Pro
ENST00000566931.1:c.23T>C	ENSP00000454605.1:p.Leu8Pro
ENST00000567274.5:c.23T>C	ENSP00000457489.1:p.Leu8Pro
ENST00000567485.1:n.120T>C
ENST00000567840.5:c.23T>C	ENSP00000455734.1:p.Leu8Pro
ENST00000622375.4:c.-37T>C	ENSP00000479984.1:n.-37T>C
NM_173500.3:c.23T>C	NP_775771.3:p.Leu8Pro
XM_005254171.3:c.189T>C	XP_005254228.1:p.Ala63=
XM_005254173.3:c.-37T>C	XP_005254230.1:n.-37T>C
XM_006720402.2:c.156T>C	XP_006720465.1:p.Ala52=
XM_011521268.1:c.189T>C	XP_011519570.1:p.Ala63=
XM_005254171.5:c.189T>C	XP_005254228.1:p.Ala63=
XM_005254173.5:c.-37T>C	XP_005254230.1:n.-37T>C
XM_006720402.4:c.156T>C	XP_006720465.1:p.Ala52=
XM_006720403.4:c.-358T>C	XP_006720466.1:n.-358T>C
XM_024449849.1:c.23T>C	XP_024305617.1:p.Leu8Pro
XM_024449850.1:c.23T>C	XP_024305618.1:p.Leu8Pro
XM_024449851.1:c.-1351T>C	XP_024305619.1:n.-1351T>C
NM_173500.4:c.23T>C MANE Select	NP_775771.3:p.Leu8Pro