Canonical Allele Identifier: CA349456496

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409078G>C (hg19) ; chr2:g.178544351G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544351G>C , CM000664.2:g.178544351G>C	GRCh38
NC_000002.11:g.179409078G>C , CM000664.1:g.179409078G>C	GRCh37
NC_000002.10:g.179117324G>C	NCBI36
NG_011618.3:g.291452C>G , LRG_391:g.291452C>G
NG_051363.1:g.26525G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88174C>G (TTN)	ENSP00000343764.6:p.His29392Asp
ENST00000342175.11:c.69259C>G (TTN)	ENSP00000340554.6:p.His23087Asp
ENST00000359218.10:c.69058C>G (TTN)	ENSP00000352154.5:p.His23020Asp
ENST00000342175.10:c.69259C>G (TTN)	ENSP00000340554.6:p.His23087Asp
ENST00000342992.10:c.88174C>G (TTN)	ENSP00000343764.6:p.His29392Asp
ENST00000359218.9:c.69058C>G (TTN)	ENSP00000352154.5:p.His23020Asp
ENST00000460472.6:c.68683C>G (TTN)	ENSP00000434586.1:p.His22895Asp
ENST00000589042.5:c.95878C>G (TTN) MANE Select	ENSP00000467141.1:p.His31960Asp
ENST00000591111.5:c.90955C>G (TTN)	ENSP00000465570.1:p.His30319Asp
ENST00000615779.4:c.90955C>G (TTN)	ENSP00000483597.1:p.His30319Asp
NM_001256850.1:c.90955C>G (TTN)	NP_001243779.1:p.His30319Asp
NM_001267550.2:c.95878C>G (TTN) MANE Select	NP_001254479.2:p.His31960Asp
NM_003319.4:c.68683C>G (TTN)	NP_003310.4:p.His22895Asp
NM_133378.4:c.88174C>G (TTN)	NP_596869.4:p.His29392Asp
NM_133432.3:c.69058C>G (TTN)	NP_597676.3:p.His23020Asp
NM_133437.4:c.69259C>G (TTN)	NP_597681.4:p.His23087Asp
NR_038271.1:n.446+20715G>C (TTN-AS1)
NR_038272.1:n.2043+1990G>C (TTN-AS1)
XM_011511729.1:c.94975C>G (TTN)	XP_011510031.1:p.His31659Asp
XM_011511730.1:c.68869C>G (TTN)	XP_011510032.1:p.His22957Asp
XM_011511731.1:c.68728C>G (TTN)	XP_011510033.1:p.His22910Asp
XM_017004819.1:c.94771C>G (TTN)	XP_016860308.1:p.His31591Asp
XM_017004820.1:c.90169C>G (TTN)	XP_016860309.1:p.His30057Asp
XM_017004821.1:c.90166C>G (TTN)	XP_016860310.1:p.His30056Asp
XM_017004822.1:c.87208C>G (TTN)	XP_016860311.1:p.His29070Asp
XM_017004823.1:c.68824C>G (TTN)	XP_016860312.1:p.His22942Asp
XM_024453094.1:c.90319C>G (TTN)	XP_024308862.1:p.His30107Asp
XM_024453095.1:c.90316C>G (TTN)	XP_024308863.1:p.His30106Asp
XM_024453096.1:c.89749C>G (TTN)	XP_024308864.1:p.His29917Asp
XM_024453097.1:c.87091C>G (TTN)	XP_024308865.1:p.His29031Asp
XM_024453098.1:c.87010C>G (TTN)	XP_024308866.1:p.His29004Asp
XM_024453099.1:c.68773C>G (TTN)	XP_024308867.1:p.His22925Asp
XM_024453100.1:c.58627C>G (TTN)	XP_024308868.1:p.His19543Asp