Canonical Allele Identifier: CA392015612

Gene: TTBK2

Linked Data

• MyVariant Identifiers: chr15:g.43069355G>T (hg19) ; chr15:g.42777157G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42777157G>T , CM000677.2:g.42777157G>T	GRCh38
NC_000015.9:g.43069355G>T , CM000677.1:g.43069355G>T	GRCh37
NC_000015.8:g.40856647G>T	NCBI36
NG_012664.1:g.148653C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000267890.11:c.1283C>A MANE Select	ENSP00000267890.6:p.Ser428Ter
ENST00000267890.10:c.1283C>A	ENSP00000267890.6:p.Ser428Ter
ENST00000567274.5:c.1178C>A	ENSP00000457489.1:p.Ser393Ter
ENST00000567840.5:c.1283C>A	ENSP00000455734.1:p.Ser428Ter
ENST00000622375.4:c.2498C>A	ENSP00000479984.1:p.Ser833Ter
NM_173500.3:c.1283C>A	NP_775771.3:p.Ser428Ter
XM_005254171.3:c.1301C>A	XP_005254228.1:p.Ser434Ter
XM_005254173.3:c.1076C>A	XP_005254230.1:p.Ser359Ter
XM_006720402.2:c.1268C>A	XP_006720465.1:p.Ser423Ter
XM_006720403.2:c.1076C>A	XP_006720466.1:p.Ser359Ter
XM_011521267.1:c.1076C>A	XP_011519569.1:p.Ser359Ter
XM_011521268.1:c.1016C>A	XP_011519570.1:p.Ser339Ter
XM_011521269.1:c.1004C>A	XP_011519571.1:p.Ser335Ter
XM_005254171.5:c.1301C>A	XP_005254228.1:p.Ser434Ter
XM_005254173.5:c.1076C>A	XP_005254230.1:p.Ser359Ter
XM_006720402.4:c.1268C>A	XP_006720465.1:p.Ser423Ter
XM_006720403.4:c.1076C>A	XP_006720466.1:p.Ser359Ter
XM_017021950.2:c.1004C>A	XP_016877439.1:p.Ser335Ter
XM_024449849.1:c.1283C>A	XP_024305617.1:p.Ser428Ter
XM_024449850.1:c.1283C>A	XP_024305618.1:p.Ser428Ter
XM_024449851.1:c.1076C>A	XP_024305619.1:p.Ser359Ter
NM_173500.4:c.1283C>A MANE Select	NP_775771.3:p.Ser428Ter