Canonical Allele Identifier: CA392015401

Gene: TTBK2

Linked Data

• MyVariant Identifiers: chr15:g.43069320C>A (hg19) ; chr15:g.42777122C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42777122C>A , CM000677.2:g.42777122C>A	GRCh38
NC_000015.9:g.43069320C>A , CM000677.1:g.43069320C>A	GRCh37
NC_000015.8:g.40856612C>A	NCBI36
NG_012664.1:g.148688G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000267890.11:c.1318G>T MANE Select	ENSP00000267890.6:p.Val440Leu
ENST00000267890.10:c.1318G>T	ENSP00000267890.6:p.Val440Leu
ENST00000567274.5:c.1213G>T	ENSP00000457489.1:p.Val405Leu
ENST00000567840.5:c.1318G>T	ENSP00000455734.1:p.Val440Leu
ENST00000622375.4:c.2533G>T	ENSP00000479984.1:p.Val845Leu
NM_173500.3:c.1318G>T	NP_775771.3:p.Val440Leu
XM_005254171.3:c.1336G>T	XP_005254228.1:p.Val446Leu
XM_005254173.3:c.1111G>T	XP_005254230.1:p.Val371Leu
XM_006720402.2:c.1303G>T	XP_006720465.1:p.Val435Leu
XM_006720403.2:c.1111G>T	XP_006720466.1:p.Val371Leu
XM_011521267.1:c.1111G>T	XP_011519569.1:p.Val371Leu
XM_011521268.1:c.1051G>T	XP_011519570.1:p.Val351Leu
XM_011521269.1:c.1039G>T	XP_011519571.1:p.Val347Leu
XM_005254171.5:c.1336G>T	XP_005254228.1:p.Val446Leu
XM_005254173.5:c.1111G>T	XP_005254230.1:p.Val371Leu
XM_006720402.4:c.1303G>T	XP_006720465.1:p.Val435Leu
XM_006720403.4:c.1111G>T	XP_006720466.1:p.Val371Leu
XM_017021950.2:c.1039G>T	XP_016877439.1:p.Val347Leu
XM_024449849.1:c.1318G>T	XP_024305617.1:p.Val440Leu
XM_024449850.1:c.1318G>T	XP_024305618.1:p.Val440Leu
XM_024449851.1:c.1111G>T	XP_024305619.1:p.Val371Leu
NM_173500.4:c.1318G>T MANE Select	NP_775771.3:p.Val440Leu