Canonical Allele Identifier: CA7516505

Gene: TTBK2

Linked Data

• ClinVar Variation Id: 425066
• ClinVar RCV Id: RCV000488259 ; RCV000765208
• dbSNP Id: rs36104367
• ExAC: 15:43038006 T / G
• gnomAD v2: 15-43038006-T-G
• gnomAD v3: 15-42745808-T-G
• gnomAD v4: 15-42745808-T-G
• MyVariant Identifiers: chr15:g.43038006T>G (hg19) ; chr15:g.42745808T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42745808T>G , CM000677.2:g.42745808T>G	GRCh38
NC_000015.9:g.43038006T>G , CM000677.1:g.43038006T>G	GRCh37
NC_000015.8:g.40825298T>G	NCBI36
NG_012664.1:g.180002A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267890.11:c.3722A>C MANE Select	ENSP00000267890.6:p.Lys1241Thr
ENST00000267890.10:c.3722A>C	ENSP00000267890.6:p.Lys1241Thr
ENST00000622375.4:c.4937A>C	ENSP00000479984.1:p.Lys1646Thr
NM_173500.3:c.3722A>C	NP_775771.3:p.Lys1241Thr
XM_005254171.3:c.3740A>C	XP_005254228.1:p.Lys1247Thr
XM_005254173.3:c.3515A>C	XP_005254230.1:p.Lys1172Thr
XM_006720402.2:c.3707A>C	XP_006720465.1:p.Lys1236Thr
XM_006720403.2:c.3515A>C	XP_006720466.1:p.Lys1172Thr
XM_011521267.1:c.3515A>C	XP_011519569.1:p.Lys1172Thr
XM_011521268.1:c.3455A>C	XP_011519570.1:p.Lys1152Thr
XM_011521269.1:c.3443A>C	XP_011519571.1:p.Lys1148Thr
XM_005254171.5:c.3740A>C	XP_005254228.1:p.Lys1247Thr
XM_005254173.5:c.3515A>C	XP_005254230.1:p.Lys1172Thr
XM_006720402.4:c.3707A>C	XP_006720465.1:p.Lys1236Thr
XM_006720403.4:c.3515A>C	XP_006720466.1:p.Lys1172Thr
XM_017021950.2:c.3443A>C	XP_016877439.1:p.Lys1148Thr
XM_024449849.1:c.3722A>C	XP_024305617.1:p.Lys1241Thr
XM_024449850.1:c.3722A>C	XP_024305618.1:p.Lys1241Thr
XM_024449851.1:c.3515A>C	XP_024305619.1:p.Lys1172Thr
NM_173500.4:c.3722A>C MANE Select	NP_775771.3:p.Lys1241Thr