Canonical Allele Identifier: CA10636001

Gene: TTBK2

Linked Data

• ClinVar Variation Id: 315969
• ClinVar RCV Id: RCV000325736
• dbSNP Id: rs116853892
• gnomAD v2: 15-43037410-T-A
• gnomAD v3: 15-42745212-T-A
• gnomAD v4: 15-42745212-T-A
• MyVariant Identifiers: chr15:g.43037410T>A (hg19) ; chr15:g.42745212T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42745212T>A , CM000677.2:g.42745212T>A	GRCh38
NC_000015.9:g.43037410T>A , CM000677.1:g.43037410T>A	GRCh37
NC_000015.8:g.40824702T>A	NCBI36
NG_012664.1:g.180598A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267890.11:c.*583A>T MANE Select	ENSP00000267890.6:n.*583A>T
ENST00000267890.10:c.*583A>T	ENSP00000267890.6:n.*583A>T
ENST00000622375.4:c.*583A>T	ENSP00000479984.1:n.*583A>T
NM_173500.3:c.*583A>T	NP_775771.3:n.*583A>T
XM_005254171.3:c.*583A>T	XP_005254228.1:n.*583A>T
XM_005254173.3:c.*583A>T	XP_005254230.1:n.*583A>T
XM_006720402.2:c.*583A>T	XP_006720465.1:n.*583A>T
XM_006720403.2:c.*583A>T	XP_006720466.1:n.*583A>T
XM_011521267.1:c.*583A>T	XP_011519569.1:n.*583A>T
XM_011521268.1:c.*583A>T	XP_011519570.1:n.*583A>T
XM_011521269.1:c.*583A>T	XP_011519571.1:n.*583A>T
XM_005254171.5:c.*583A>T	XP_005254228.1:n.*583A>T
XM_005254173.5:c.*583A>T	XP_005254230.1:n.*583A>T
XM_006720402.4:c.*583A>T	XP_006720465.1:n.*583A>T
XM_006720403.4:c.*583A>T	XP_006720466.1:n.*583A>T
XM_017021950.2:c.*583A>T	XP_016877439.1:n.*583A>T
XM_024449849.1:c.*583A>T	XP_024305617.1:n.*583A>T
XM_024449850.1:c.*583A>T	XP_024305618.1:n.*583A>T
XM_024449851.1:c.*583A>T	XP_024305619.1:n.*583A>T
NM_173500.4:c.*583A>T MANE Select	NP_775771.3:n.*583A>T