Canonical Allele Identifier: CA7516869

Gene: TTBK2

Linked Data

• ClinVar Variation Id: 315992
• ClinVar RCV Id: RCV000379173 ; RCV000518308 ; RCV000658708 ; RCV002522789 ; RCV003969883
• dbSNP Id: rs200124857
• ExAC: 15:43067776 C / G
• gnomAD v2: 15-43067776-C-G
• gnomAD v3: 15-42775578-C-G
• gnomAD v4: 15-42775578-C-G
• MyVariant Identifiers: chr15:g.43067776C>G (hg19) ; chr15:g.42775578C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42775578C>G , CM000677.2:g.42775578C>G	GRCh38
NC_000015.9:g.43067776C>G , CM000677.1:g.43067776C>G	GRCh37
NC_000015.8:g.40855068C>G	NCBI36
NG_012664.1:g.150232G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267890.11:c.1555G>C MANE Select	ENSP00000267890.6:p.Ala519Pro
ENST00000267890.10:c.1555G>C	ENSP00000267890.6:p.Ala519Pro
ENST00000622375.4:c.2770G>C	ENSP00000479984.1:p.Ala924Pro
NM_173500.3:c.1555G>C	NP_775771.3:p.Ala519Pro
XM_005254171.3:c.1573G>C	XP_005254228.1:p.Ala525Pro
XM_005254173.3:c.1348G>C	XP_005254230.1:p.Ala450Pro
XM_006720402.2:c.1540G>C	XP_006720465.1:p.Ala514Pro
XM_006720403.2:c.1348G>C	XP_006720466.1:p.Ala450Pro
XM_011521267.1:c.1348G>C	XP_011519569.1:p.Ala450Pro
XM_011521268.1:c.1288G>C	XP_011519570.1:p.Ala430Pro
XM_011521269.1:c.1276G>C	XP_011519571.1:p.Ala426Pro
XM_005254171.5:c.1573G>C	XP_005254228.1:p.Ala525Pro
XM_005254173.5:c.1348G>C	XP_005254230.1:p.Ala450Pro
XM_006720402.4:c.1540G>C	XP_006720465.1:p.Ala514Pro
XM_006720403.4:c.1348G>C	XP_006720466.1:p.Ala450Pro
XM_017021950.2:c.1276G>C	XP_016877439.1:p.Ala426Pro
XM_024449849.1:c.1555G>C	XP_024305617.1:p.Ala519Pro
XM_024449850.1:c.1555G>C	XP_024305618.1:p.Ala519Pro
XM_024449851.1:c.1348G>C	XP_024305619.1:p.Ala450Pro
NM_173500.4:c.1555G>C MANE Select	NP_775771.3:p.Ala519Pro