Canonical Allele Identifier: CA7516634

Gene: TTBK2

Linked Data

• ClinVar Variation Id: 315980
• ClinVar RCV Id: RCV000303717 ; RCV000903326 ; RCV001289303 ; RCV002522786
• dbSNP Id: rs55833708
• ExAC: 15:43044259 G / A
• gnomAD v2: 15-43044259-G-A
• gnomAD v3: 15-42752061-G-A
• gnomAD v4: 15-42752061-G-A
• MyVariant Identifiers: chr15:g.43044259G>A (hg19) ; chr15:g.42752061G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42752061G>A , CM000677.2:g.42752061G>A	GRCh38
NC_000015.9:g.43044259G>A , CM000677.1:g.43044259G>A	GRCh37
NC_000015.8:g.40831551G>A	NCBI36
NG_012664.1:g.173749C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267890.11:c.3185C>T MANE Select	ENSP00000267890.6:p.Thr1062Ile
ENST00000267890.10:c.3185C>T	ENSP00000267890.6:p.Thr1062Ile
ENST00000622375.4:c.4400C>T	ENSP00000479984.1:p.Thr1467Ile
NM_173500.3:c.3185C>T	NP_775771.3:p.Thr1062Ile
XM_005254171.3:c.3203C>T	XP_005254228.1:p.Thr1068Ile
XM_005254173.3:c.2978C>T	XP_005254230.1:p.Thr993Ile
XM_006720402.2:c.3170C>T	XP_006720465.1:p.Thr1057Ile
XM_006720403.2:c.2978C>T	XP_006720466.1:p.Thr993Ile
XM_011521267.1:c.2978C>T	XP_011519569.1:p.Thr993Ile
XM_011521268.1:c.2918C>T	XP_011519570.1:p.Thr973Ile
XM_011521269.1:c.2906C>T	XP_011519571.1:p.Thr969Ile
XM_005254171.5:c.3203C>T	XP_005254228.1:p.Thr1068Ile
XM_005254173.5:c.2978C>T	XP_005254230.1:p.Thr993Ile
XM_006720402.4:c.3170C>T	XP_006720465.1:p.Thr1057Ile
XM_006720403.4:c.2978C>T	XP_006720466.1:p.Thr993Ile
XM_017021950.2:c.2906C>T	XP_016877439.1:p.Thr969Ile
XM_024449849.1:c.3185C>T	XP_024305617.1:p.Thr1062Ile
XM_024449850.1:c.3185C>T	XP_024305618.1:p.Thr1062Ile
XM_024449851.1:c.2978C>T	XP_024305619.1:p.Thr993Ile
NM_173500.4:c.3185C>T MANE Select	NP_775771.3:p.Thr1062Ile