Canonical Allele Identifier: CA392014878
Gene: TTBK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42777060C>A , CM000677.2:g.42777060C>A GRCh38
NC_000015.9:g.43069258C>A , CM000677.1:g.43069258C>A GRCh37
NC_000015.8:g.40856550C>A NCBI36
NG_012664.1:g.148750G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000267890.11:c.1380G>T MANE Select ENSP00000267890.6:p.Lys460Asn
ENST00000267890.10:c.1380G>T ENSP00000267890.6:p.Lys460Asn
ENST00000567274.5:c.1275G>T ENSP00000457489.1:p.Lys425Asn
ENST00000567840.5:c.1380G>T ENSP00000455734.1:p.Lys460Asn
ENST00000622375.4:c.2595G>T ENSP00000479984.1:p.Lys865Asn
NM_173500.3:c.1380G>T NP_775771.3:p.Lys460Asn
XM_005254171.3:c.1398G>T XP_005254228.1:p.Lys466Asn
XM_005254173.3:c.1173G>T XP_005254230.1:p.Lys391Asn
XM_006720402.2:c.1365G>T XP_006720465.1:p.Lys455Asn
XM_006720403.2:c.1173G>T XP_006720466.1:p.Lys391Asn
XM_011521267.1:c.1173G>T XP_011519569.1:p.Lys391Asn
XM_011521268.1:c.1113G>T XP_011519570.1:p.Lys371Asn
XM_011521269.1:c.1101G>T XP_011519571.1:p.Lys367Asn
XM_005254171.5:c.1398G>T XP_005254228.1:p.Lys466Asn
XM_005254173.5:c.1173G>T XP_005254230.1:p.Lys391Asn
XM_006720402.4:c.1365G>T XP_006720465.1:p.Lys455Asn
XM_006720403.4:c.1173G>T XP_006720466.1:p.Lys391Asn
XM_017021950.2:c.1101G>T XP_016877439.1:p.Lys367Asn
XM_024449849.1:c.1380G>T XP_024305617.1:p.Lys460Asn
XM_024449850.1:c.1380G>T XP_024305618.1:p.Lys460Asn
XM_024449851.1:c.1173G>T XP_024305619.1:p.Lys391Asn
NM_173500.4:c.1380G>T MANE Select NP_775771.3:p.Lys460Asn