Canonical Allele Identifier: CA392015653

Gene: TTBK2

Linked Data

• MyVariant Identifiers: chr15:g.43069361A>C (hg19) ; chr15:g.42777163A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42777163A>C , CM000677.2:g.42777163A>C	GRCh38
NC_000015.9:g.43069361A>C , CM000677.1:g.43069361A>C	GRCh37
NC_000015.8:g.40856653A>C	NCBI36
NG_012664.1:g.148647T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000267890.11:c.1277T>G MANE Select	ENSP00000267890.6:p.Val426Gly
ENST00000267890.10:c.1277T>G	ENSP00000267890.6:p.Val426Gly
ENST00000567274.5:c.1172T>G	ENSP00000457489.1:p.Val391Gly
ENST00000567840.5:c.1277T>G	ENSP00000455734.1:p.Val426Gly
ENST00000622375.4:c.2492T>G	ENSP00000479984.1:p.Val831Gly
NM_173500.3:c.1277T>G	NP_775771.3:p.Val426Gly
XM_005254171.3:c.1295T>G	XP_005254228.1:p.Val432Gly
XM_005254173.3:c.1070T>G	XP_005254230.1:p.Val357Gly
XM_006720402.2:c.1262T>G	XP_006720465.1:p.Val421Gly
XM_006720403.2:c.1070T>G	XP_006720466.1:p.Val357Gly
XM_011521267.1:c.1070T>G	XP_011519569.1:p.Val357Gly
XM_011521268.1:c.1010T>G	XP_011519570.1:p.Val337Gly
XM_011521269.1:c.998T>G	XP_011519571.1:p.Val333Gly
XM_005254171.5:c.1295T>G	XP_005254228.1:p.Val432Gly
XM_005254173.5:c.1070T>G	XP_005254230.1:p.Val357Gly
XM_006720402.4:c.1262T>G	XP_006720465.1:p.Val421Gly
XM_006720403.4:c.1070T>G	XP_006720466.1:p.Val357Gly
XM_017021950.2:c.998T>G	XP_016877439.1:p.Val333Gly
XM_024449849.1:c.1277T>G	XP_024305617.1:p.Val426Gly
XM_024449850.1:c.1277T>G	XP_024305618.1:p.Val426Gly
XM_024449851.1:c.1070T>G	XP_024305619.1:p.Val357Gly
NM_173500.4:c.1277T>G MANE Select	NP_775771.3:p.Val426Gly