Canonical Allele Identifier: CA1995725

Gene: TTN

Linked Data

• ClinVar Variation Id: 405043
• ClinVar RCV Id: RCV000475649 ; RCV003139637
• dbSNP Id: rs572315033
• ExAC: 2:179495065 T / C
• gnomAD v2: 2-179495065-T-C
• gnomAD v3: 2-178630338-T-C
• gnomAD v4: 2-178630338-T-C
• MyVariant Identifiers: chr2:g.179495065T>C (hg19) ; chr2:g.178630338T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630338T>C , CM000664.2:g.178630338T>C	GRCh38
NC_000002.11:g.179495065T>C , CM000664.1:g.179495065T>C	GRCh37
NC_000002.10:g.179203310T>C	NCBI36
NG_011618.3:g.205465A>G , LRG_391:g.205465A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.36480A>G	ENSP00000343764.6:p.Ile12160Met
ENST00000342175.11:c.17565A>G	ENSP00000340554.6:p.Ile5855Met
ENST00000359218.10:c.17364A>G	ENSP00000352154.5:p.Ile5788Met
ENST00000342175.10:c.17565A>G	ENSP00000340554.6:p.Ile5855Met
ENST00000342992.10:c.36480A>G	ENSP00000343764.6:p.Ile12160Met
ENST00000359218.9:c.17364A>G	ENSP00000352154.5:p.Ile5788Met
ENST00000460472.6:c.16989A>G	ENSP00000434586.1:p.Ile5663Met
ENST00000589042.5:c.44184A>G MANE Select	ENSP00000467141.1:p.Ile14728Met
ENST00000591111.5:c.39261A>G	ENSP00000465570.1:p.Ile13087Met
ENST00000615779.4:c.39261A>G	ENSP00000483597.1:p.Ile13087Met
NM_001256850.1:c.39261A>G	NP_001243779.1:p.Ile13087Met
NM_001267550.2:c.44184A>G MANE Select	NP_001254479.2:p.Ile14728Met
NM_003319.4:c.16989A>G	NP_003310.4:p.Ile5663Met
NM_133378.4:c.36480A>G	NP_596869.4:p.Ile12160Met
NM_133432.3:c.17364A>G	NP_597676.3:p.Ile5788Met
NM_133437.4:c.17565A>G	NP_597681.4:p.Ile5855Met
XM_011511729.1:c.43281A>G	XP_011510031.1:p.Ile14427Met
XM_011511730.1:c.17175A>G	XP_011510032.1:p.Ile5725Met
XM_011511731.1:c.17034A>G	XP_011510033.1:p.Ile5678Met
XM_017004819.1:c.43077A>G	XP_016860308.1:p.Ile14359Met
XM_017004820.1:c.38475A>G	XP_016860309.1:p.Ile12825Met
XM_017004821.1:c.38472A>G	XP_016860310.1:p.Ile12824Met
XM_017004822.1:c.35514A>G	XP_016860311.1:p.Ile11838Met
XM_017004823.1:c.17130A>G	XP_016860312.1:p.Ile5710Met
XM_024453094.1:c.38625A>G	XP_024308862.1:p.Ile12875Met
XM_024453095.1:c.38622A>G	XP_024308863.1:p.Ile12874Met
XM_024453096.1:c.38055A>G	XP_024308864.1:p.Ile12685Met
XM_024453097.1:c.35397A>G	XP_024308865.1:p.Ile11799Met
XM_024453098.1:c.35316A>G	XP_024308866.1:p.Ile11772Met
XM_024453099.1:c.17079A>G	XP_024308867.1:p.Ile5693Met
XM_024453100.1:c.6933A>G	XP_024308868.1:p.Ile2311Met