Canonical Allele Identifier: CA349427711

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179402260A>G (hg19) ; chr2:g.178537533A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537533A>G , CM000664.2:g.178537533A>G	GRCh38
NC_000002.11:g.179402260A>G , CM000664.1:g.179402260A>G	GRCh37
NC_000002.10:g.179110506A>G	NCBI36
NG_011618.3:g.298270T>C , LRG_391:g.298270T>C
NG_051363.1:g.19707A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.91970T>C (TTN)	ENSP00000343764.6:p.Val30657Ala
ENST00000342175.11:c.73055T>C (TTN)	ENSP00000340554.6:p.Val24352Ala
ENST00000359218.10:c.72854T>C (TTN)	ENSP00000352154.5:p.Val24285Ala
ENST00000342175.10:c.73055T>C (TTN)	ENSP00000340554.6:p.Val24352Ala
ENST00000342992.10:c.91970T>C (TTN)	ENSP00000343764.6:p.Val30657Ala
ENST00000359218.9:c.72854T>C (TTN)	ENSP00000352154.5:p.Val24285Ala
ENST00000460472.6:c.72479T>C (TTN)	ENSP00000434586.1:p.Val24160Ala
ENST00000589042.5:c.99674T>C (TTN) MANE Select	ENSP00000467141.1:p.Val33225Ala
ENST00000591111.5:c.94751T>C (TTN)	ENSP00000465570.1:p.Val31584Ala
ENST00000615779.4:c.94751T>C (TTN)	ENSP00000483597.1:p.Val31584Ala
NM_001256850.1:c.94751T>C (TTN)	NP_001243779.1:p.Val31584Ala
NM_001267550.2:c.99674T>C (TTN) MANE Select	NP_001254479.2:p.Val33225Ala
NM_003319.4:c.72479T>C (TTN)	NP_003310.4:p.Val24160Ala
NM_133378.4:c.91970T>C (TTN)	NP_596869.4:p.Val30657Ala
NM_133432.3:c.72854T>C (TTN)	NP_597676.3:p.Val24285Ala
NM_133437.4:c.73055T>C (TTN)	NP_597681.4:p.Val24352Ala
NR_038271.1:n.446+13897A>G (TTN-AS1)
NR_038272.1:n.489A>G (TTN-AS1)
XM_011511729.1:c.98771T>C (TTN)	XP_011510031.1:p.Val32924Ala
XM_011511730.1:c.72665T>C (TTN)	XP_011510032.1:p.Val24222Ala
XM_011511731.1:c.72524T>C (TTN)	XP_011510033.1:p.Val24175Ala
XM_017004819.1:c.98567T>C (TTN)	XP_016860308.1:p.Val32856Ala
XM_017004820.1:c.93965T>C (TTN)	XP_016860309.1:p.Val31322Ala
XM_017004821.1:c.93962T>C (TTN)	XP_016860310.1:p.Val31321Ala
XM_017004822.1:c.91004T>C (TTN)	XP_016860311.1:p.Val30335Ala
XM_017004823.1:c.72620T>C (TTN)	XP_016860312.1:p.Val24207Ala
XM_024453094.1:c.94115T>C (TTN)	XP_024308862.1:p.Val31372Ala
XM_024453095.1:c.94112T>C (TTN)	XP_024308863.1:p.Val31371Ala
XM_024453096.1:c.93545T>C (TTN)	XP_024308864.1:p.Val31182Ala
XM_024453097.1:c.90887T>C (TTN)	XP_024308865.1:p.Val30296Ala
XM_024453098.1:c.90806T>C (TTN)	XP_024308866.1:p.Val30269Ala
XM_024453099.1:c.72569T>C (TTN)	XP_024308867.1:p.Val24190Ala
XM_024453100.1:c.62423T>C (TTN)	XP_024308868.1:p.Val20808Ala