Canonical Allele Identifier: CA349456473

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409076A>T (hg19) ; chr2:g.178544349A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544349A>T , CM000664.2:g.178544349A>T	GRCh38
NC_000002.11:g.179409076A>T , CM000664.1:g.179409076A>T	GRCh37
NC_000002.10:g.179117322A>T	NCBI36
NG_011618.3:g.291454T>A , LRG_391:g.291454T>A
NG_051363.1:g.26523A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88176T>A (TTN)	ENSP00000343764.6:p.His29392Gln
ENST00000342175.11:c.69261T>A (TTN)	ENSP00000340554.6:p.His23087Gln
ENST00000359218.10:c.69060T>A (TTN)	ENSP00000352154.5:p.His23020Gln
ENST00000342175.10:c.69261T>A (TTN)	ENSP00000340554.6:p.His23087Gln
ENST00000342992.10:c.88176T>A (TTN)	ENSP00000343764.6:p.His29392Gln
ENST00000359218.9:c.69060T>A (TTN)	ENSP00000352154.5:p.His23020Gln
ENST00000460472.6:c.68685T>A (TTN)	ENSP00000434586.1:p.His22895Gln
ENST00000589042.5:c.95880T>A (TTN) MANE Select	ENSP00000467141.1:p.His31960Gln
ENST00000591111.5:c.90957T>A (TTN)	ENSP00000465570.1:p.His30319Gln
ENST00000615779.4:c.90957T>A (TTN)	ENSP00000483597.1:p.His30319Gln
NM_001256850.1:c.90957T>A (TTN)	NP_001243779.1:p.His30319Gln
NM_001267550.2:c.95880T>A (TTN) MANE Select	NP_001254479.2:p.His31960Gln
NM_003319.4:c.68685T>A (TTN)	NP_003310.4:p.His22895Gln
NM_133378.4:c.88176T>A (TTN)	NP_596869.4:p.His29392Gln
NM_133432.3:c.69060T>A (TTN)	NP_597676.3:p.His23020Gln
NM_133437.4:c.69261T>A (TTN)	NP_597681.4:p.His23087Gln
NR_038271.1:n.446+20713A>T (TTN-AS1)
NR_038272.1:n.2043+1988A>T (TTN-AS1)
XM_011511729.1:c.94977T>A (TTN)	XP_011510031.1:p.His31659Gln
XM_011511730.1:c.68871T>A (TTN)	XP_011510032.1:p.His22957Gln
XM_011511731.1:c.68730T>A (TTN)	XP_011510033.1:p.His22910Gln
XM_017004819.1:c.94773T>A (TTN)	XP_016860308.1:p.His31591Gln
XM_017004820.1:c.90171T>A (TTN)	XP_016860309.1:p.His30057Gln
XM_017004821.1:c.90168T>A (TTN)	XP_016860310.1:p.His30056Gln
XM_017004822.1:c.87210T>A (TTN)	XP_016860311.1:p.His29070Gln
XM_017004823.1:c.68826T>A (TTN)	XP_016860312.1:p.His22942Gln
XM_024453094.1:c.90321T>A (TTN)	XP_024308862.1:p.His30107Gln
XM_024453095.1:c.90318T>A (TTN)	XP_024308863.1:p.His30106Gln
XM_024453096.1:c.89751T>A (TTN)	XP_024308864.1:p.His29917Gln
XM_024453097.1:c.87093T>A (TTN)	XP_024308865.1:p.His29031Gln
XM_024453098.1:c.87012T>A (TTN)	XP_024308866.1:p.His29004Gln
XM_024453099.1:c.68775T>A (TTN)	XP_024308867.1:p.His22925Gln
XM_024453100.1:c.58629T>A (TTN)	XP_024308868.1:p.His19543Gln