Canonical Allele Identifier: CA349611300

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178568822-T-G
• MyVariant Identifiers: chr2:g.179433549T>G (hg19) ; chr2:g.178568822T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568822T>G , CM000664.2:g.178568822T>G	GRCh38
NC_000002.11:g.179433549T>G , CM000664.1:g.179433549T>G	GRCh37
NC_000002.10:g.179141795T>G	NCBI36
NG_011618.3:g.266981A>C , LRG_391:g.266981A>C
NG_051363.1:g.50996T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69606A>C (TTN)	ENSP00000343764.6:p.Arg23202Ser
ENST00000342175.11:c.50691A>C (TTN)	ENSP00000340554.6:p.Arg16897Ser
ENST00000359218.10:c.50490A>C (TTN)	ENSP00000352154.5:p.Arg16830Ser
ENST00000342175.10:c.50691A>C (TTN)	ENSP00000340554.6:p.Arg16897Ser
ENST00000342992.10:c.69606A>C (TTN)	ENSP00000343764.6:p.Arg23202Ser
ENST00000359218.9:c.50490A>C (TTN)	ENSP00000352154.5:p.Arg16830Ser
ENST00000460472.6:c.50115A>C (TTN)	ENSP00000434586.1:p.Arg16705Ser
ENST00000589042.5:c.77310A>C (TTN) MANE Select	ENSP00000467141.1:p.Arg25770Ser
ENST00000591111.5:c.72387A>C (TTN)	ENSP00000465570.1:p.Arg24129Ser
ENST00000615779.4:c.72387A>C (TTN)	ENSP00000483597.1:p.Arg24129Ser
NM_001256850.1:c.72387A>C (TTN)	NP_001243779.1:p.Arg24129Ser
NM_001267550.2:c.77310A>C (TTN) MANE Select	NP_001254479.2:p.Arg25770Ser
NM_003319.4:c.50115A>C (TTN)	NP_003310.4:p.Arg16705Ser
NM_133378.4:c.69606A>C (TTN)	NP_596869.4:p.Arg23202Ser
NM_133432.3:c.50490A>C (TTN)	NP_597676.3:p.Arg16830Ser
NM_133437.4:c.50691A>C (TTN)	NP_597681.4:p.Arg16897Ser
NR_038271.1:n.447-2478T>G (TTN-AS1)
NR_038272.1:n.2044-13750T>G (TTN-AS1)
XM_011511729.1:c.76407A>C (TTN)	XP_011510031.1:p.Arg25469Ser
XM_011511730.1:c.50301A>C (TTN)	XP_011510032.1:p.Arg16767Ser
XM_011511731.1:c.50160A>C (TTN)	XP_011510033.1:p.Arg16720Ser
XM_017004819.1:c.76203A>C (TTN)	XP_016860308.1:p.Arg25401Ser
XM_017004820.1:c.71601A>C (TTN)	XP_016860309.1:p.Arg23867Ser
XM_017004821.1:c.71598A>C (TTN)	XP_016860310.1:p.Arg23866Ser
XM_017004822.1:c.68640A>C (TTN)	XP_016860311.1:p.Arg22880Ser
XM_017004823.1:c.50256A>C (TTN)	XP_016860312.1:p.Arg16752Ser
XM_024453094.1:c.71751A>C (TTN)	XP_024308862.1:p.Arg23917Ser
XM_024453095.1:c.71748A>C (TTN)	XP_024308863.1:p.Arg23916Ser
XM_024453096.1:c.71181A>C (TTN)	XP_024308864.1:p.Arg23727Ser
XM_024453097.1:c.68523A>C (TTN)	XP_024308865.1:p.Arg22841Ser
XM_024453098.1:c.68442A>C (TTN)	XP_024308866.1:p.Arg22814Ser
XM_024453099.1:c.50205A>C (TTN)	XP_024308867.1:p.Arg16735Ser
XM_024453100.1:c.40059A>C (TTN)	XP_024308868.1:p.Arg13353Ser