Canonical Allele Identifier: CA349405462

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179394809T>A (hg19) ; chr2:g.178530082T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530082T>A , CM000664.2:g.178530082T>A	GRCh38
NC_000002.11:g.179394809T>A , CM000664.1:g.179394809T>A	GRCh37
NC_000002.10:g.179103055T>A	NCBI36
NG_011618.3:g.305721A>T , LRG_391:g.305721A>T
NG_051363.1:g.12256T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98705A>T (TTN)	ENSP00000343764.6:p.Glu32902Val
ENST00000342175.11:c.79790A>T (TTN)	ENSP00000340554.6:p.Glu26597Val
ENST00000359218.10:c.79589A>T (TTN)	ENSP00000352154.5:p.Glu26530Val
ENST00000342175.10:c.79790A>T (TTN)	ENSP00000340554.6:p.Glu26597Val
ENST00000342992.10:c.98705A>T (TTN)	ENSP00000343764.6:p.Glu32902Val
ENST00000359218.9:c.79589A>T (TTN)	ENSP00000352154.5:p.Glu26530Val
ENST00000460472.6:c.79214A>T (TTN)	ENSP00000434586.1:p.Glu26405Val
ENST00000589042.5:c.106409A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu35470Val
ENST00000591111.5:c.101486A>T (TTN)	ENSP00000465570.1:p.Glu33829Val
ENST00000615779.4:c.101486A>T (TTN)	ENSP00000483597.1:p.Glu33829Val
NM_001256850.1:c.101486A>T (TTN)	NP_001243779.1:p.Glu33829Val
NM_001267550.2:c.106409A>T (TTN) MANE Select	NP_001254479.2:p.Glu35470Val
NM_003319.4:c.79214A>T (TTN)	NP_003310.4:p.Glu26405Val
NM_133378.4:c.98705A>T (TTN)	NP_596869.4:p.Glu32902Val
NM_133432.3:c.79589A>T (TTN)	NP_597676.3:p.Glu26530Val
NM_133437.4:c.79790A>T (TTN)	NP_597681.4:p.Glu26597Val
NR_038271.1:n.446+6446T>A (TTN-AS1)
NR_038272.1:n.220-5650T>A (TTN-AS1)
XM_011511729.1:c.105506A>T (TTN)	XP_011510031.1:p.Glu35169Val
XM_011511730.1:c.79400A>T (TTN)	XP_011510032.1:p.Glu26467Val
XM_011511731.1:c.79259A>T (TTN)	XP_011510033.1:p.Glu26420Val
XM_017004819.1:c.105302A>T (TTN)	XP_016860308.1:p.Glu35101Val
XM_017004820.1:c.100700A>T (TTN)	XP_016860309.1:p.Glu33567Val
XM_017004821.1:c.100697A>T (TTN)	XP_016860310.1:p.Glu33566Val
XM_017004822.1:c.97739A>T (TTN)	XP_016860311.1:p.Glu32580Val
XM_017004823.1:c.79355A>T (TTN)	XP_016860312.1:p.Glu26452Val
XM_024453094.1:c.100850A>T (TTN)	XP_024308862.1:p.Glu33617Val
XM_024453095.1:c.100847A>T (TTN)	XP_024308863.1:p.Glu33616Val
XM_024453096.1:c.100280A>T (TTN)	XP_024308864.1:p.Glu33427Val
XM_024453097.1:c.97622A>T (TTN)	XP_024308865.1:p.Glu32541Val
XM_024453098.1:c.97541A>T (TTN)	XP_024308866.1:p.Glu32514Val
XM_024453099.1:c.79304A>T (TTN)	XP_024308867.1:p.Glu26435Val
XM_024453100.1:c.69158A>T (TTN)	XP_024308868.1:p.Glu23053Val