Canonical Allele Identifier: CA349645644

Gene: TTN

Linked Data

• COSMIC: COSM3837861 ; COSM3837862 ; COSM3837863 ; COSM3837864
• MyVariant Identifiers: chr2:g.179495060G>C (hg19) ; chr2:g.178630333G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630333G>C , CM000664.2:g.178630333G>C	GRCh38
NC_000002.11:g.179495060G>C , CM000664.1:g.179495060G>C	GRCh37
NC_000002.10:g.179203305G>C	NCBI36
NG_011618.3:g.205470C>G , LRG_391:g.205470C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.36485C>G	ENSP00000343764.6:p.Ser12162Cys
ENST00000342175.11:c.17570C>G	ENSP00000340554.6:p.Ser5857Cys
ENST00000359218.10:c.17369C>G	ENSP00000352154.5:p.Ser5790Cys
ENST00000342175.10:c.17570C>G	ENSP00000340554.6:p.Ser5857Cys
ENST00000342992.10:c.36485C>G	ENSP00000343764.6:p.Ser12162Cys
ENST00000359218.9:c.17369C>G	ENSP00000352154.5:p.Ser5790Cys
ENST00000460472.6:c.16994C>G	ENSP00000434586.1:p.Ser5665Cys
ENST00000589042.5:c.44189C>G MANE Select	ENSP00000467141.1:p.Ser14730Cys
ENST00000591111.5:c.39266C>G	ENSP00000465570.1:p.Ser13089Cys
ENST00000615779.4:c.39266C>G	ENSP00000483597.1:p.Ser13089Cys
NM_001256850.1:c.39266C>G	NP_001243779.1:p.Ser13089Cys
NM_001267550.2:c.44189C>G MANE Select	NP_001254479.2:p.Ser14730Cys
NM_003319.4:c.16994C>G	NP_003310.4:p.Ser5665Cys
NM_133378.4:c.36485C>G	NP_596869.4:p.Ser12162Cys
NM_133432.3:c.17369C>G	NP_597676.3:p.Ser5790Cys
NM_133437.4:c.17570C>G	NP_597681.4:p.Ser5857Cys
XM_011511729.1:c.43286C>G	XP_011510031.1:p.Ser14429Cys
XM_011511730.1:c.17180C>G	XP_011510032.1:p.Ser5727Cys
XM_011511731.1:c.17039C>G	XP_011510033.1:p.Ser5680Cys
XM_017004819.1:c.43082C>G	XP_016860308.1:p.Ser14361Cys
XM_017004820.1:c.38480C>G	XP_016860309.1:p.Ser12827Cys
XM_017004821.1:c.38477C>G	XP_016860310.1:p.Ser12826Cys
XM_017004822.1:c.35519C>G	XP_016860311.1:p.Ser11840Cys
XM_017004823.1:c.17135C>G	XP_016860312.1:p.Ser5712Cys
XM_024453094.1:c.38630C>G	XP_024308862.1:p.Ser12877Cys
XM_024453095.1:c.38627C>G	XP_024308863.1:p.Ser12876Cys
XM_024453096.1:c.38060C>G	XP_024308864.1:p.Ser12687Cys
XM_024453097.1:c.35402C>G	XP_024308865.1:p.Ser11801Cys
XM_024453098.1:c.35321C>G	XP_024308866.1:p.Ser11774Cys
XM_024453099.1:c.17084C>G	XP_024308867.1:p.Ser5695Cys
XM_024453100.1:c.6938C>G	XP_024308868.1:p.Ser2313Cys