Canonical Allele Identifier: CA10645962

Gene: TTBK2

Linked Data

• ClinVar Variation Id: 315964
• ClinVar RCV Id: RCV000359317
• dbSNP Id: rs567667407
• gnomAD v2: 15-43037146-A-G
• gnomAD v3: 15-42744948-A-G
• gnomAD v4: 15-42744948-A-G
• MyVariant Identifiers: chr15:g.43037146A>G (hg19) ; chr15:g.42744948A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42744948A>G , CM000677.2:g.42744948A>G	GRCh38
NC_000015.9:g.43037146A>G , CM000677.1:g.43037146A>G	GRCh37
NC_000015.8:g.40824438A>G	NCBI36
NG_012664.1:g.180862T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267890.11:c.*847T>C MANE Select	ENSP00000267890.6:n.*847T>C
ENST00000267890.10:c.*847T>C	ENSP00000267890.6:n.*847T>C
ENST00000622375.4:c.*847T>C	ENSP00000479984.1:n.*847T>C
NM_173500.3:c.*847T>C	NP_775771.3:n.*847T>C
XM_005254171.3:c.*847T>C	XP_005254228.1:n.*847T>C
XM_005254173.3:c.*847T>C	XP_005254230.1:n.*847T>C
XM_006720402.2:c.*847T>C	XP_006720465.1:n.*847T>C
XM_006720403.2:c.*847T>C	XP_006720466.1:n.*847T>C
XM_011521267.1:c.*847T>C	XP_011519569.1:n.*847T>C
XM_011521268.1:c.*847T>C	XP_011519570.1:n.*847T>C
XM_011521269.1:c.*847T>C	XP_011519571.1:n.*847T>C
XM_005254171.5:c.*847T>C	XP_005254228.1:n.*847T>C
XM_005254173.5:c.*847T>C	XP_005254230.1:n.*847T>C
XM_006720402.4:c.*847T>C	XP_006720465.1:n.*847T>C
XM_006720403.4:c.*847T>C	XP_006720466.1:n.*847T>C
XM_017021950.2:c.*847T>C	XP_016877439.1:n.*847T>C
XM_024449849.1:c.*847T>C	XP_024305617.1:n.*847T>C
XM_024449850.1:c.*847T>C	XP_024305618.1:n.*847T>C
XM_024449851.1:c.*847T>C	XP_024305619.1:n.*847T>C
NM_173500.4:c.*847T>C MANE Select	NP_775771.3:n.*847T>C