Canonical Allele Identifier: CA349646383

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179495663T>G (hg19) ; chr2:g.178630936T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630936T>G , CM000664.2:g.178630936T>G	GRCh38
NC_000002.11:g.179495663T>G , CM000664.1:g.179495663T>G	GRCh37
NC_000002.10:g.179203908T>G	NCBI36
NG_011618.3:g.204867A>C , LRG_391:g.204867A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36318A>C	ENSP00000343764.6:p.Glu12106Asp
ENST00000342175.11:c.17403A>C	ENSP00000340554.6:p.Glu5801Asp
ENST00000359218.10:c.17202A>C	ENSP00000352154.5:p.Glu5734Asp
ENST00000342175.10:c.17403A>C	ENSP00000340554.6:p.Glu5801Asp
ENST00000342992.10:c.36318A>C	ENSP00000343764.6:p.Glu12106Asp
ENST00000359218.9:c.17202A>C	ENSP00000352154.5:p.Glu5734Asp
ENST00000460472.6:c.16827A>C	ENSP00000434586.1:p.Glu5609Asp
ENST00000589042.5:c.44022A>C MANE Select	ENSP00000467141.1:p.Glu14674Asp
ENST00000591111.5:c.39099A>C	ENSP00000465570.1:p.Glu13033Asp
ENST00000615779.4:c.39099A>C	ENSP00000483597.1:p.Glu13033Asp
NM_001256850.1:c.39099A>C	NP_001243779.1:p.Glu13033Asp
NM_001267550.2:c.44022A>C MANE Select	NP_001254479.2:p.Glu14674Asp
NM_003319.4:c.16827A>C	NP_003310.4:p.Glu5609Asp
NM_133378.4:c.36318A>C	NP_596869.4:p.Glu12106Asp
NM_133432.3:c.17202A>C	NP_597676.3:p.Glu5734Asp
NM_133437.4:c.17403A>C	NP_597681.4:p.Glu5801Asp
XM_011511729.1:c.43119A>C	XP_011510031.1:p.Glu14373Asp
XM_011511730.1:c.17013A>C	XP_011510032.1:p.Glu5671Asp
XM_011511731.1:c.16872A>C	XP_011510033.1:p.Glu5624Asp
XM_017004819.1:c.42915A>C	XP_016860308.1:p.Glu14305Asp
XM_017004820.1:c.38313A>C	XP_016860309.1:p.Glu12771Asp
XM_017004821.1:c.38310A>C	XP_016860310.1:p.Glu12770Asp
XM_017004822.1:c.35352A>C	XP_016860311.1:p.Glu11784Asp
XM_017004823.1:c.16968A>C	XP_016860312.1:p.Glu5656Asp
XM_024453094.1:c.38463A>C	XP_024308862.1:p.Glu12821Asp
XM_024453095.1:c.38460A>C	XP_024308863.1:p.Glu12820Asp
XM_024453096.1:c.37893A>C	XP_024308864.1:p.Glu12631Asp
XM_024453097.1:c.35235A>C	XP_024308865.1:p.Glu11745Asp
XM_024453098.1:c.35154A>C	XP_024308866.1:p.Glu11718Asp
XM_024453099.1:c.16917A>C	XP_024308867.1:p.Glu5639Asp
XM_024453100.1:c.6771A>C	XP_024308868.1:p.Glu2257Asp