Canonical Allele Identifier: CA349406856

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1323725
• ClinVar RCV Id: RCV001785099 ; RCV004527432
• dbSNP Id: rs2154132755
• MyVariant Identifiers: chr2:g.179395182G>C (hg19) ; chr2:g.178530455G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530455G>C , CM000664.2:g.178530455G>C	GRCh38
NC_000002.11:g.179395182G>C , CM000664.1:g.179395182G>C	GRCh37
NC_000002.10:g.179103428G>C	NCBI36
NG_011618.3:g.305348C>G , LRG_391:g.305348C>G
NG_051363.1:g.12629G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98456C>G (TTN)	ENSP00000343764.6:p.Ser32819Ter
ENST00000342175.11:c.79541C>G (TTN)	ENSP00000340554.6:p.Ser26514Ter
ENST00000359218.10:c.79340C>G (TTN)	ENSP00000352154.5:p.Ser26447Ter
ENST00000342175.10:c.79541C>G (TTN)	ENSP00000340554.6:p.Ser26514Ter
ENST00000342992.10:c.98456C>G (TTN)	ENSP00000343764.6:p.Ser32819Ter
ENST00000359218.9:c.79340C>G (TTN)	ENSP00000352154.5:p.Ser26447Ter
ENST00000460472.6:c.78965C>G (TTN)	ENSP00000434586.1:p.Ser26322Ter
ENST00000589042.5:c.106160C>G (TTN) MANE Select	ENSP00000467141.1:p.Ser35387Ter
ENST00000591111.5:c.101237C>G (TTN)	ENSP00000465570.1:p.Ser33746Ter
ENST00000615779.4:c.101237C>G (TTN)	ENSP00000483597.1:p.Ser33746Ter
NM_001256850.1:c.101237C>G (TTN)	NP_001243779.1:p.Ser33746Ter
NM_001267550.2:c.106160C>G (TTN) MANE Select	NP_001254479.2:p.Ser35387Ter
NM_003319.4:c.78965C>G (TTN)	NP_003310.4:p.Ser26322Ter
NM_133378.4:c.98456C>G (TTN)	NP_596869.4:p.Ser32819Ter
NM_133432.3:c.79340C>G (TTN)	NP_597676.3:p.Ser26447Ter
NM_133437.4:c.79541C>G (TTN)	NP_597681.4:p.Ser26514Ter
NR_038271.1:n.446+6819G>C (TTN-AS1)
NR_038272.1:n.220-5277G>C (TTN-AS1)
XM_011511729.1:c.105257C>G (TTN)	XP_011510031.1:p.Ser35086Ter
XM_011511730.1:c.79151C>G (TTN)	XP_011510032.1:p.Ser26384Ter
XM_011511731.1:c.79010C>G (TTN)	XP_011510033.1:p.Ser26337Ter
XM_017004819.1:c.105053C>G (TTN)	XP_016860308.1:p.Ser35018Ter
XM_017004820.1:c.100451C>G (TTN)	XP_016860309.1:p.Ser33484Ter
XM_017004821.1:c.100448C>G (TTN)	XP_016860310.1:p.Ser33483Ter
XM_017004822.1:c.97490C>G (TTN)	XP_016860311.1:p.Ser32497Ter
XM_017004823.1:c.79106C>G (TTN)	XP_016860312.1:p.Ser26369Ter
XM_024453094.1:c.100601C>G (TTN)	XP_024308862.1:p.Ser33534Ter
XM_024453095.1:c.100598C>G (TTN)	XP_024308863.1:p.Ser33533Ter
XM_024453096.1:c.100031C>G (TTN)	XP_024308864.1:p.Ser33344Ter
XM_024453097.1:c.97373C>G (TTN)	XP_024308865.1:p.Ser32458Ter
XM_024453098.1:c.97292C>G (TTN)	XP_024308866.1:p.Ser32431Ter
XM_024453099.1:c.79055C>G (TTN)	XP_024308867.1:p.Ser26352Ter
XM_024453100.1:c.68909C>G (TTN)	XP_024308868.1:p.Ser22970Ter