Canonical Allele Identifier: CA349434742

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179404675A>T (hg19) ; chr2:g.178539948A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178539948A>T , CM000664.2:g.178539948A>T	GRCh38
NC_000002.11:g.179404675A>T , CM000664.1:g.179404675A>T	GRCh37
NC_000002.10:g.179112921A>T	NCBI36
NG_011618.3:g.295855T>A , LRG_391:g.295855T>A
NG_051363.1:g.22122A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.90413T>A (TTN)	ENSP00000343764.6:p.Leu30138His
ENST00000342175.11:c.71498T>A (TTN)	ENSP00000340554.6:p.Leu23833His
ENST00000359218.10:c.71297T>A (TTN)	ENSP00000352154.5:p.Leu23766His
ENST00000342175.10:c.71498T>A (TTN)	ENSP00000340554.6:p.Leu23833His
ENST00000342992.10:c.90413T>A (TTN)	ENSP00000343764.6:p.Leu30138His
ENST00000359218.9:c.71297T>A (TTN)	ENSP00000352154.5:p.Leu23766His
ENST00000460472.6:c.70922T>A (TTN)	ENSP00000434586.1:p.Leu23641His
ENST00000589042.5:c.98117T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu32706His
ENST00000591111.5:c.93194T>A (TTN)	ENSP00000465570.1:p.Leu31065His
ENST00000615779.4:c.93194T>A (TTN)	ENSP00000483597.1:p.Leu31065His
NM_001256850.1:c.93194T>A (TTN)	NP_001243779.1:p.Leu31065His
NM_001267550.2:c.98117T>A (TTN) MANE Select	NP_001254479.2:p.Leu32706His
NM_003319.4:c.70922T>A (TTN)	NP_003310.4:p.Leu23641His
NM_133378.4:c.90413T>A (TTN)	NP_596869.4:p.Leu30138His
NM_133432.3:c.71297T>A (TTN)	NP_597676.3:p.Leu23766His
NM_133437.4:c.71498T>A (TTN)	NP_597681.4:p.Leu23833His
NR_038271.1:n.446+16312A>T (TTN-AS1)
NR_038272.1:n.1840+58A>T (TTN-AS1)
XM_011511729.1:c.97214T>A (TTN)	XP_011510031.1:p.Leu32405His
XM_011511730.1:c.71108T>A (TTN)	XP_011510032.1:p.Leu23703His
XM_011511731.1:c.70967T>A (TTN)	XP_011510033.1:p.Leu23656His
XM_017004819.1:c.97010T>A (TTN)	XP_016860308.1:p.Leu32337His
XM_017004820.1:c.92408T>A (TTN)	XP_016860309.1:p.Leu30803His
XM_017004821.1:c.92405T>A (TTN)	XP_016860310.1:p.Leu30802His
XM_017004822.1:c.89447T>A (TTN)	XP_016860311.1:p.Leu29816His
XM_017004823.1:c.71063T>A (TTN)	XP_016860312.1:p.Leu23688His
XM_024453094.1:c.92558T>A (TTN)	XP_024308862.1:p.Leu30853His
XM_024453095.1:c.92555T>A (TTN)	XP_024308863.1:p.Leu30852His
XM_024453096.1:c.91988T>A (TTN)	XP_024308864.1:p.Leu30663His
XM_024453097.1:c.89330T>A (TTN)	XP_024308865.1:p.Leu29777His
XM_024453098.1:c.89249T>A (TTN)	XP_024308866.1:p.Leu29750His
XM_024453099.1:c.71012T>A (TTN)	XP_024308867.1:p.Leu23671His
XM_024453100.1:c.60866T>A (TTN)	XP_024308868.1:p.Leu20289His