Canonical Allele Identifier: CA349405208

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2438042
• ClinVar RCV Id: RCV003137207
• MyVariant Identifiers: chr2:g.179394764G>A (hg19) ; chr2:g.178530037G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530037G>A , CM000664.2:g.178530037G>A	GRCh38
NC_000002.11:g.179394764G>A , CM000664.1:g.179394764G>A	GRCh37
NC_000002.10:g.179103010G>A	NCBI36
NG_011618.3:g.305766C>T , LRG_391:g.305766C>T
NG_051363.1:g.12211G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98750C>T (TTN)	ENSP00000343764.6:p.Ser32917Phe
ENST00000342175.11:c.79835C>T (TTN)	ENSP00000340554.6:p.Ser26612Phe
ENST00000359218.10:c.79634C>T (TTN)	ENSP00000352154.5:p.Ser26545Phe
ENST00000342175.10:c.79835C>T (TTN)	ENSP00000340554.6:p.Ser26612Phe
ENST00000342992.10:c.98750C>T (TTN)	ENSP00000343764.6:p.Ser32917Phe
ENST00000359218.9:c.79634C>T (TTN)	ENSP00000352154.5:p.Ser26545Phe
ENST00000460472.6:c.79259C>T (TTN)	ENSP00000434586.1:p.Ser26420Phe
ENST00000589042.5:c.106454C>T (TTN) MANE Select	ENSP00000467141.1:p.Ser35485Phe
ENST00000591111.5:c.101531C>T (TTN)	ENSP00000465570.1:p.Ser33844Phe
ENST00000615779.4:c.101531C>T (TTN)	ENSP00000483597.1:p.Ser33844Phe
NM_001256850.1:c.101531C>T (TTN)	NP_001243779.1:p.Ser33844Phe
NM_001267550.2:c.106454C>T (TTN) MANE Select	NP_001254479.2:p.Ser35485Phe
NM_003319.4:c.79259C>T (TTN)	NP_003310.4:p.Ser26420Phe
NM_133378.4:c.98750C>T (TTN)	NP_596869.4:p.Ser32917Phe
NM_133432.3:c.79634C>T (TTN)	NP_597676.3:p.Ser26545Phe
NM_133437.4:c.79835C>T (TTN)	NP_597681.4:p.Ser26612Phe
NR_038271.1:n.446+6401G>A (TTN-AS1)
NR_038272.1:n.220-5695G>A (TTN-AS1)
XM_011511729.1:c.105551C>T (TTN)	XP_011510031.1:p.Ser35184Phe
XM_011511730.1:c.79445C>T (TTN)	XP_011510032.1:p.Ser26482Phe
XM_011511731.1:c.79304C>T (TTN)	XP_011510033.1:p.Ser26435Phe
XM_017004819.1:c.105347C>T (TTN)	XP_016860308.1:p.Ser35116Phe
XM_017004820.1:c.100745C>T (TTN)	XP_016860309.1:p.Ser33582Phe
XM_017004821.1:c.100742C>T (TTN)	XP_016860310.1:p.Ser33581Phe
XM_017004822.1:c.97784C>T (TTN)	XP_016860311.1:p.Ser32595Phe
XM_017004823.1:c.79400C>T (TTN)	XP_016860312.1:p.Ser26467Phe
XM_024453094.1:c.100895C>T (TTN)	XP_024308862.1:p.Ser33632Phe
XM_024453095.1:c.100892C>T (TTN)	XP_024308863.1:p.Ser33631Phe
XM_024453096.1:c.100325C>T (TTN)	XP_024308864.1:p.Ser33442Phe
XM_024453097.1:c.97667C>T (TTN)	XP_024308865.1:p.Ser32556Phe
XM_024453098.1:c.97586C>T (TTN)	XP_024308866.1:p.Ser32529Phe
XM_024453099.1:c.79349C>T (TTN)	XP_024308867.1:p.Ser26450Phe
XM_024453100.1:c.69203C>T (TTN)	XP_024308868.1:p.Ser23068Phe