Canonical Allele Identifier: CA489892896

Gene: TTBK2

Linked Data

• gnomAD v4: 15-42777066-C-T
• MyVariant Identifiers: chr15:g.43069264C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42777066C>T , CM000677.2:g.42777066C>T	GRCh38
NC_000015.9:g.43069264C>T , CM000677.1:g.43069264C>T	GRCh37
NC_000015.8:g.40856556C>T	NCBI36
NG_012664.1:g.148744G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000267890.11:c.1374G>A MANE Select	ENSP00000267890.6:p.Glu458=
ENST00000267890.10:c.1374G>A	ENSP00000267890.6:p.Glu458=
ENST00000567274.5:c.1269G>A	ENSP00000457489.1:p.Glu423=
ENST00000567840.5:c.1374G>A	ENSP00000455734.1:p.Glu458=
ENST00000622375.4:c.2589G>A	ENSP00000479984.1:p.Glu863=
NM_173500.3:c.1374G>A	NP_775771.3:p.Glu458=
XM_005254171.3:c.1392G>A	XP_005254228.1:p.Glu464=
XM_005254173.3:c.1167G>A	XP_005254230.1:p.Glu389=
XM_006720402.2:c.1359G>A	XP_006720465.1:p.Glu453=
XM_006720403.2:c.1167G>A	XP_006720466.1:p.Glu389=
XM_011521267.1:c.1167G>A	XP_011519569.1:p.Glu389=
XM_011521268.1:c.1107G>A	XP_011519570.1:p.Glu369=
XM_011521269.1:c.1095G>A	XP_011519571.1:p.Glu365=
XM_005254171.5:c.1392G>A	XP_005254228.1:p.Glu464=
XM_005254173.5:c.1167G>A	XP_005254230.1:p.Glu389=
XM_006720402.4:c.1359G>A	XP_006720465.1:p.Glu453=
XM_006720403.4:c.1167G>A	XP_006720466.1:p.Glu389=
XM_017021950.2:c.1095G>A	XP_016877439.1:p.Glu365=
XM_024449849.1:c.1374G>A	XP_024305617.1:p.Glu458=
XM_024449850.1:c.1374G>A	XP_024305618.1:p.Glu458=
XM_024449851.1:c.1167G>A	XP_024305619.1:p.Glu389=
NM_173500.4:c.1374G>A MANE Select	NP_775771.3:p.Glu458=