Canonical Allele Identifier: CA349445807

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179407988C>A (hg19) ; chr2:g.178543261C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543261C>A , CM000664.2:g.178543261C>A	GRCh38
NC_000002.11:g.179407988C>A , CM000664.1:g.179407988C>A	GRCh37
NC_000002.10:g.179116234C>A	NCBI36
NG_011618.3:g.292542G>T , LRG_391:g.292542G>T
NG_051363.1:g.25435C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.89008G>T (TTN)	ENSP00000343764.6:p.Val29670Phe
ENST00000342175.11:c.70093G>T (TTN)	ENSP00000340554.6:p.Val23365Phe
ENST00000359218.10:c.69892G>T (TTN)	ENSP00000352154.5:p.Val23298Phe
ENST00000342175.10:c.70093G>T (TTN)	ENSP00000340554.6:p.Val23365Phe
ENST00000342992.10:c.89008G>T (TTN)	ENSP00000343764.6:p.Val29670Phe
ENST00000359218.9:c.69892G>T (TTN)	ENSP00000352154.5:p.Val23298Phe
ENST00000460472.6:c.69517G>T (TTN)	ENSP00000434586.1:p.Val23173Phe
ENST00000589042.5:c.96712G>T (TTN) MANE Select	ENSP00000467141.1:p.Val32238Phe
ENST00000591111.5:c.91789G>T (TTN)	ENSP00000465570.1:p.Val30597Phe
ENST00000615779.4:c.91789G>T (TTN)	ENSP00000483597.1:p.Val30597Phe
NM_001256850.1:c.91789G>T (TTN)	NP_001243779.1:p.Val30597Phe
NM_001267550.2:c.96712G>T (TTN) MANE Select	NP_001254479.2:p.Val32238Phe
NM_003319.4:c.69517G>T (TTN)	NP_003310.4:p.Val23173Phe
NM_133378.4:c.89008G>T (TTN)	NP_596869.4:p.Val29670Phe
NM_133432.3:c.69892G>T (TTN)	NP_597676.3:p.Val23298Phe
NM_133437.4:c.70093G>T (TTN)	NP_597681.4:p.Val23365Phe
NR_038271.1:n.446+19625C>A (TTN-AS1)
NR_038272.1:n.2043+900C>A (TTN-AS1)
XM_011511729.1:c.95809G>T (TTN)	XP_011510031.1:p.Val31937Phe
XM_011511730.1:c.69703G>T (TTN)	XP_011510032.1:p.Val23235Phe
XM_011511731.1:c.69562G>T (TTN)	XP_011510033.1:p.Val23188Phe
XM_017004819.1:c.95605G>T (TTN)	XP_016860308.1:p.Val31869Phe
XM_017004820.1:c.91003G>T (TTN)	XP_016860309.1:p.Val30335Phe
XM_017004821.1:c.91000G>T (TTN)	XP_016860310.1:p.Val30334Phe
XM_017004822.1:c.88042G>T (TTN)	XP_016860311.1:p.Val29348Phe
XM_017004823.1:c.69658G>T (TTN)	XP_016860312.1:p.Val23220Phe
XM_024453094.1:c.91153G>T (TTN)	XP_024308862.1:p.Val30385Phe
XM_024453095.1:c.91150G>T (TTN)	XP_024308863.1:p.Val30384Phe
XM_024453096.1:c.90583G>T (TTN)	XP_024308864.1:p.Val30195Phe
XM_024453097.1:c.87925G>T (TTN)	XP_024308865.1:p.Val29309Phe
XM_024453098.1:c.87844G>T (TTN)	XP_024308866.1:p.Val29282Phe
XM_024453099.1:c.69607G>T (TTN)	XP_024308867.1:p.Val23203Phe
XM_024453100.1:c.59461G>T (TTN)	XP_024308868.1:p.Val19821Phe