Canonical Allele Identifier: CA430114059

Gene: TTN

Linked Data

• gnomAD v4: 2-178630936-T-C
• MyVariant Identifiers: chr2:g.179495663T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36318A>G	ENSP00000343764.6:p.Glu12106=
ENST00000342175.11:c.17403A>G	ENSP00000340554.6:p.Glu5801=
ENST00000359218.10:c.17202A>G	ENSP00000352154.5:p.Glu5734=
ENST00000342175.10:c.17403A>G	ENSP00000340554.6:p.Glu5801=
ENST00000342992.10:c.36318A>G	ENSP00000343764.6:p.Glu12106=
ENST00000359218.9:c.17202A>G	ENSP00000352154.5:p.Glu5734=
ENST00000460472.6:c.16827A>G	ENSP00000434586.1:p.Glu5609=
ENST00000589042.5:c.44022A>G MANE Select	ENSP00000467141.1:p.Glu14674=
ENST00000591111.5:c.39099A>G	ENSP00000465570.1:p.Glu13033=
ENST00000615779.4:c.39099A>G	ENSP00000483597.1:p.Glu13033=
NM_001256850.1:c.39099A>G	NP_001243779.1:p.Glu13033=
NM_001267550.2:c.44022A>G MANE Select	NP_001254479.2:p.Glu14674=
NM_003319.4:c.16827A>G	NP_003310.4:p.Glu5609=
NM_133378.4:c.36318A>G	NP_596869.4:p.Glu12106=
NM_133432.3:c.17202A>G	NP_597676.3:p.Glu5734=
NM_133437.4:c.17403A>G	NP_597681.4:p.Glu5801=
XM_011511729.1:c.43119A>G	XP_011510031.1:p.Glu14373=
XM_011511730.1:c.17013A>G	XP_011510032.1:p.Glu5671=
XM_011511731.1:c.16872A>G	XP_011510033.1:p.Glu5624=
XM_017004819.1:c.42915A>G	XP_016860308.1:p.Glu14305=
XM_017004820.1:c.38313A>G	XP_016860309.1:p.Glu12771=
XM_017004821.1:c.38310A>G	XP_016860310.1:p.Glu12770=
XM_017004822.1:c.35352A>G	XP_016860311.1:p.Glu11784=
XM_017004823.1:c.16968A>G	XP_016860312.1:p.Glu5656=
XM_024453094.1:c.38463A>G	XP_024308862.1:p.Glu12821=
XM_024453095.1:c.38460A>G	XP_024308863.1:p.Glu12820=
XM_024453096.1:c.37893A>G	XP_024308864.1:p.Glu12631=
XM_024453097.1:c.35235A>G	XP_024308865.1:p.Glu11745=
XM_024453098.1:c.35154A>G	XP_024308866.1:p.Glu11718=
XM_024453099.1:c.16917A>G	XP_024308867.1:p.Glu5639=
XM_024453100.1:c.6771A>G	XP_024308868.1:p.Glu2257=