Canonical Allele Identifier: CA349450566

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408593T>A (hg19) ; chr2:g.178543866T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543866T>A , CM000664.2:g.178543866T>A	GRCh38
NC_000002.11:g.179408593T>A , CM000664.1:g.179408593T>A	GRCh37
NC_000002.10:g.179116839T>A	NCBI36
NG_011618.3:g.291937A>T , LRG_391:g.291937A>T
NG_051363.1:g.26040T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88574A>T (TTN)	ENSP00000343764.6:p.Lys29525Met
ENST00000342175.11:c.69659A>T (TTN)	ENSP00000340554.6:p.Lys23220Met
ENST00000359218.10:c.69458A>T (TTN)	ENSP00000352154.5:p.Lys23153Met
ENST00000342175.10:c.69659A>T (TTN)	ENSP00000340554.6:p.Lys23220Met
ENST00000342992.10:c.88574A>T (TTN)	ENSP00000343764.6:p.Lys29525Met
ENST00000359218.9:c.69458A>T (TTN)	ENSP00000352154.5:p.Lys23153Met
ENST00000460472.6:c.69083A>T (TTN)	ENSP00000434586.1:p.Lys23028Met
ENST00000589042.5:c.96278A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys32093Met
ENST00000591111.5:c.91355A>T (TTN)	ENSP00000465570.1:p.Lys30452Met
ENST00000615779.4:c.91355A>T (TTN)	ENSP00000483597.1:p.Lys30452Met
NM_001256850.1:c.91355A>T (TTN)	NP_001243779.1:p.Lys30452Met
NM_001267550.2:c.96278A>T (TTN) MANE Select	NP_001254479.2:p.Lys32093Met
NM_003319.4:c.69083A>T (TTN)	NP_003310.4:p.Lys23028Met
NM_133378.4:c.88574A>T (TTN)	NP_596869.4:p.Lys29525Met
NM_133432.3:c.69458A>T (TTN)	NP_597676.3:p.Lys23153Met
NM_133437.4:c.69659A>T (TTN)	NP_597681.4:p.Lys23220Met
NR_038271.1:n.446+20230T>A (TTN-AS1)
NR_038272.1:n.2043+1505T>A (TTN-AS1)
XM_011511729.1:c.95375A>T (TTN)	XP_011510031.1:p.Lys31792Met
XM_011511730.1:c.69269A>T (TTN)	XP_011510032.1:p.Lys23090Met
XM_011511731.1:c.69128A>T (TTN)	XP_011510033.1:p.Lys23043Met
XM_017004819.1:c.95171A>T (TTN)	XP_016860308.1:p.Lys31724Met
XM_017004820.1:c.90569A>T (TTN)	XP_016860309.1:p.Lys30190Met
XM_017004821.1:c.90566A>T (TTN)	XP_016860310.1:p.Lys30189Met
XM_017004822.1:c.87608A>T (TTN)	XP_016860311.1:p.Lys29203Met
XM_017004823.1:c.69224A>T (TTN)	XP_016860312.1:p.Lys23075Met
XM_024453094.1:c.90719A>T (TTN)	XP_024308862.1:p.Lys30240Met
XM_024453095.1:c.90716A>T (TTN)	XP_024308863.1:p.Lys30239Met
XM_024453096.1:c.90149A>T (TTN)	XP_024308864.1:p.Lys30050Met
XM_024453097.1:c.87491A>T (TTN)	XP_024308865.1:p.Lys29164Met
XM_024453098.1:c.87410A>T (TTN)	XP_024308866.1:p.Lys29137Met
XM_024453099.1:c.69173A>T (TTN)	XP_024308867.1:p.Lys23058Met
XM_024453100.1:c.59027A>T (TTN)	XP_024308868.1:p.Lys19676Met