Canonical Allele Identifier: CA349621011

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435180T>C (hg19) ; chr2:g.178570453T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570453T>C , CM000664.2:g.178570453T>C	GRCh38
NC_000002.11:g.179435180T>C , CM000664.1:g.179435180T>C	GRCh37
NC_000002.10:g.179143426T>C	NCBI36
NG_011618.3:g.265350A>G , LRG_391:g.265350A>G
NG_051363.1:g.52627T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67975A>G (TTN)	ENSP00000343764.6:p.Lys22659Glu
ENST00000342175.11:c.49060A>G (TTN)	ENSP00000340554.6:p.Lys16354Glu
ENST00000359218.10:c.48859A>G (TTN)	ENSP00000352154.5:p.Lys16287Glu
ENST00000342175.10:c.49060A>G (TTN)	ENSP00000340554.6:p.Lys16354Glu
ENST00000342992.10:c.67975A>G (TTN)	ENSP00000343764.6:p.Lys22659Glu
ENST00000359218.9:c.48859A>G (TTN)	ENSP00000352154.5:p.Lys16287Glu
ENST00000460472.6:c.48484A>G (TTN)	ENSP00000434586.1:p.Lys16162Glu
ENST00000589042.5:c.75679A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys25227Glu
ENST00000591111.5:c.70756A>G (TTN)	ENSP00000465570.1:p.Lys23586Glu
ENST00000615779.4:c.70756A>G (TTN)	ENSP00000483597.1:p.Lys23586Glu
NM_001256850.1:c.70756A>G (TTN)	NP_001243779.1:p.Lys23586Glu
NM_001267550.2:c.75679A>G (TTN) MANE Select	NP_001254479.2:p.Lys25227Glu
NM_003319.4:c.48484A>G (TTN)	NP_003310.4:p.Lys16162Glu
NM_133378.4:c.67975A>G (TTN)	NP_596869.4:p.Lys22659Glu
NM_133432.3:c.48859A>G (TTN)	NP_597676.3:p.Lys16287Glu
NM_133437.4:c.49060A>G (TTN)	NP_597681.4:p.Lys16354Glu
NR_038271.1:n.447-847T>C (TTN-AS1)
NR_038272.1:n.2044-12119T>C (TTN-AS1)
XM_011511729.1:c.74776A>G (TTN)	XP_011510031.1:p.Lys24926Glu
XM_011511730.1:c.48670A>G (TTN)	XP_011510032.1:p.Lys16224Glu
XM_011511731.1:c.48529A>G (TTN)	XP_011510033.1:p.Lys16177Glu
XM_017004819.1:c.74572A>G (TTN)	XP_016860308.1:p.Lys24858Glu
XM_017004820.1:c.69970A>G (TTN)	XP_016860309.1:p.Lys23324Glu
XM_017004821.1:c.69967A>G (TTN)	XP_016860310.1:p.Lys23323Glu
XM_017004822.1:c.67009A>G (TTN)	XP_016860311.1:p.Lys22337Glu
XM_017004823.1:c.48625A>G (TTN)	XP_016860312.1:p.Lys16209Glu
XM_024453094.1:c.70120A>G (TTN)	XP_024308862.1:p.Lys23374Glu
XM_024453095.1:c.70117A>G (TTN)	XP_024308863.1:p.Lys23373Glu
XM_024453096.1:c.69550A>G (TTN)	XP_024308864.1:p.Lys23184Glu
XM_024453097.1:c.66892A>G (TTN)	XP_024308865.1:p.Lys22298Glu
XM_024453098.1:c.66811A>G (TTN)	XP_024308866.1:p.Lys22271Glu
XM_024453099.1:c.48574A>G (TTN)	XP_024308867.1:p.Lys16192Glu
XM_024453100.1:c.38428A>G (TTN)	XP_024308868.1:p.Lys12810Glu