Canonical Allele Identifier: CA349398245

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179391784A>T (hg19) ; chr2:g.178527057A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527057A>T , CM000664.2:g.178527057A>T	GRCh38
NC_000002.11:g.179391784A>T , CM000664.1:g.179391784A>T	GRCh37
NC_000002.10:g.179100030A>T	NCBI36
NG_011618.3:g.308746T>A , LRG_391:g.308746T>A
NG_051363.1:g.9231A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100227T>A (TTN)	ENSP00000343764.6:p.Phe33409Leu
ENST00000342175.11:c.81312T>A (TTN)	ENSP00000340554.6:p.Phe27104Leu
ENST00000359218.10:c.81111T>A (TTN)	ENSP00000352154.5:p.Phe27037Leu
ENST00000342175.10:c.81312T>A (TTN)	ENSP00000340554.6:p.Phe27104Leu
ENST00000342992.10:c.100227T>A (TTN)	ENSP00000343764.6:p.Phe33409Leu
ENST00000359218.9:c.81111T>A (TTN)	ENSP00000352154.5:p.Phe27037Leu
ENST00000460472.6:c.80736T>A (TTN)	ENSP00000434586.1:p.Phe26912Leu
ENST00000589042.5:c.107931T>A (TTN) MANE Select	ENSP00000467141.1:p.Phe35977Leu
ENST00000591111.5:c.103008T>A (TTN)	ENSP00000465570.1:p.Phe34336Leu
ENST00000615779.4:c.103008T>A (TTN)	ENSP00000483597.1:p.Phe34336Leu
NM_001256850.1:c.103008T>A (TTN)	NP_001243779.1:p.Phe34336Leu
NM_001267550.2:c.107931T>A (TTN) MANE Select	NP_001254479.2:p.Phe35977Leu
NM_003319.4:c.80736T>A (TTN)	NP_003310.4:p.Phe26912Leu
NM_133378.4:c.100227T>A (TTN)	NP_596869.4:p.Phe33409Leu
NM_133432.3:c.81111T>A (TTN)	NP_597676.3:p.Phe27037Leu
NM_133437.4:c.81312T>A (TTN)	NP_597681.4:p.Phe27104Leu
NR_038271.1:n.446+3421A>T (TTN-AS1)
NR_038272.1:n.219+3421A>T (TTN-AS1)
XM_011511729.1:c.107028T>A (TTN)	XP_011510031.1:p.Phe35676Leu
XM_011511730.1:c.80922T>A (TTN)	XP_011510032.1:p.Phe26974Leu
XM_011511731.1:c.80781T>A (TTN)	XP_011510033.1:p.Phe26927Leu
XM_017004819.1:c.106824T>A (TTN)	XP_016860308.1:p.Phe35608Leu
XM_017004820.1:c.102222T>A (TTN)	XP_016860309.1:p.Phe34074Leu
XM_017004821.1:c.102219T>A (TTN)	XP_016860310.1:p.Phe34073Leu
XM_017004822.1:c.99261T>A (TTN)	XP_016860311.1:p.Phe33087Leu
XM_017004823.1:c.80877T>A (TTN)	XP_016860312.1:p.Phe26959Leu
XM_024453094.1:c.102372T>A (TTN)	XP_024308862.1:p.Phe34124Leu
XM_024453095.1:c.102369T>A (TTN)	XP_024308863.1:p.Phe34123Leu
XM_024453096.1:c.101802T>A (TTN)	XP_024308864.1:p.Phe33934Leu
XM_024453097.1:c.99144T>A (TTN)	XP_024308865.1:p.Phe33048Leu
XM_024453098.1:c.99063T>A (TTN)	XP_024308866.1:p.Phe33021Leu
XM_024453099.1:c.80826T>A (TTN)	XP_024308867.1:p.Phe26942Leu
XM_024453100.1:c.70680T>A (TTN)	XP_024308868.1:p.Phe23560Leu