Canonical Allele Identifier: CA349488757

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179456714C>G (hg19) ; chr2:g.178591987C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591987C>G , CM000664.2:g.178591987C>G	GRCh38
NC_000002.11:g.179456714C>G , CM000664.1:g.179456714C>G	GRCh37
NC_000002.10:g.179164960C>G	NCBI36
NG_011618.3:g.243816G>C , LRG_391:g.243816G>C
NG_051363.1:g.74161C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.52213G>C (TTN)	ENSP00000343764.6:p.Asp17405His
ENST00000342175.11:c.33298G>C (TTN)	ENSP00000340554.6:p.Asp11100His
ENST00000359218.10:c.33097G>C (TTN)	ENSP00000352154.5:p.Asp11033His
ENST00000342175.10:c.33298G>C (TTN)	ENSP00000340554.6:p.Asp11100His
ENST00000342992.10:c.52213G>C (TTN)	ENSP00000343764.6:p.Asp17405His
ENST00000359218.9:c.33097G>C (TTN)	ENSP00000352154.5:p.Asp11033His
ENST00000460472.6:c.32722G>C (TTN)	ENSP00000434586.1:p.Asp10908His
ENST00000589042.5:c.59917G>C (TTN) MANE Select	ENSP00000467141.1:p.Asp19973His
ENST00000591111.5:c.54994G>C (TTN)	ENSP00000465570.1:p.Asp18332His
ENST00000615779.4:c.54994G>C (TTN)	ENSP00000483597.1:p.Asp18332His
NM_001256850.1:c.54994G>C (TTN)	NP_001243779.1:p.Asp18332His
NM_001267550.2:c.59917G>C (TTN) MANE Select	NP_001254479.2:p.Asp19973His
NM_003319.4:c.32722G>C (TTN)	NP_003310.4:p.Asp10908His
NM_133378.4:c.52213G>C (TTN)	NP_596869.4:p.Asp17405His
NM_133432.3:c.33097G>C (TTN)	NP_597676.3:p.Asp11033His
NM_133437.4:c.33298G>C (TTN)	NP_597681.4:p.Asp11100His
NR_038271.1:n.597-5609C>G (TTN-AS1)
NR_038272.1:n.3364+673C>G (TTN-AS1)
XM_011511729.1:c.59014G>C (TTN)	XP_011510031.1:p.Asp19672His
XM_011511730.1:c.32908G>C (TTN)	XP_011510032.1:p.Asp10970His
XM_011511731.1:c.32767G>C (TTN)	XP_011510033.1:p.Asp10923His
XM_017004819.1:c.58810G>C (TTN)	XP_016860308.1:p.Asp19604His
XM_017004820.1:c.54208G>C (TTN)	XP_016860309.1:p.Asp18070His
XM_017004821.1:c.54205G>C (TTN)	XP_016860310.1:p.Asp18069His
XM_017004822.1:c.51247G>C (TTN)	XP_016860311.1:p.Asp17083His
XM_017004823.1:c.32863G>C (TTN)	XP_016860312.1:p.Asp10955His
XM_024453094.1:c.54358G>C (TTN)	XP_024308862.1:p.Asp18120His
XM_024453095.1:c.54355G>C (TTN)	XP_024308863.1:p.Asp18119His
XM_024453096.1:c.53788G>C (TTN)	XP_024308864.1:p.Asp17930His
XM_024453097.1:c.51130G>C (TTN)	XP_024308865.1:p.Asp17044His
XM_024453098.1:c.51049G>C (TTN)	XP_024308866.1:p.Asp17017His
XM_024453099.1:c.32812G>C (TTN)	XP_024308867.1:p.Asp10938His
XM_024453100.1:c.22666G>C (TTN)	XP_024308868.1:p.Asp7556His