Canonical Allele Identifier: CA7516878

Gene: TTBK2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42775634C>A , CM000677.2:g.42775634C>A	GRCh38
NC_000015.9:g.43067832C>A , CM000677.1:g.43067832C>A	GRCh37
NC_000015.8:g.40855124C>A	NCBI36
NG_012664.1:g.150176G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_173500.4:c.1499G>T MANE Select	NP_775771.3:p.Arg500Leu
ENST00000267890.11:c.1499G>T MANE Select	ENSP00000267890.6:p.Arg500Leu
NM_173500.3:c.1499G>T	NP_775771.3:p.Arg500Leu
ENST00000267890.10:c.1499G>T	ENSP00000267890.6:p.Arg500Leu
ENST00000622375.4:c.2714G>T	ENSP00000479984.1:p.Arg905Leu
XM_005254171.3:c.1517G>T	XP_005254228.1:p.Arg506Leu
XM_005254171.5:c.1517G>T	XP_005254228.1:p.Arg506Leu
XM_005254173.3:c.1292G>T	XP_005254230.1:p.Arg431Leu
XM_005254173.5:c.1292G>T	XP_005254230.1:p.Arg431Leu
XM_006720402.2:c.1484G>T	XP_006720465.1:p.Arg495Leu
XM_006720402.4:c.1484G>T	XP_006720465.1:p.Arg495Leu
XM_006720403.2:c.1292G>T	XP_006720466.1:p.Arg431Leu
XM_006720403.4:c.1292G>T	XP_006720466.1:p.Arg431Leu
XM_011521267.1:c.1292G>T	XP_011519569.1:p.Arg431Leu
XM_011521268.1:c.1232G>T	XP_011519570.1:p.Arg411Leu
XM_011521269.1:c.1220G>T	XP_011519571.1:p.Arg407Leu
XM_017021950.2:c.1220G>T	XP_016877439.1:p.Arg407Leu
XM_024449849.1:c.1499G>T	XP_024305617.1:p.Arg500Leu
XM_024449850.1:c.1499G>T	XP_024305618.1:p.Arg500Leu
XM_024449851.1:c.1292G>T	XP_024305619.1:p.Arg431Leu