Canonical Allele Identifier: CA349411767

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM353057 ; COSM353058 ; COSM353059
• MyVariant Identifiers: chr2:g.179396920C>G (hg19) ; chr2:g.178532193C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532193C>G , CM000664.2:g.178532193C>G	GRCh38
NC_000002.11:g.179396920C>G , CM000664.1:g.179396920C>G	GRCh37
NC_000002.10:g.179105166C>G	NCBI36
NG_011618.3:g.303610G>C , LRG_391:g.303610G>C
NG_051363.1:g.14367C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96718G>C (TTN)	ENSP00000343764.6:p.Glu32240Gln
ENST00000342175.11:c.77803G>C (TTN)	ENSP00000340554.6:p.Glu25935Gln
ENST00000359218.10:c.77602G>C (TTN)	ENSP00000352154.5:p.Glu25868Gln
ENST00000342175.10:c.77803G>C (TTN)	ENSP00000340554.6:p.Glu25935Gln
ENST00000342992.10:c.96718G>C (TTN)	ENSP00000343764.6:p.Glu32240Gln
ENST00000359218.9:c.77602G>C (TTN)	ENSP00000352154.5:p.Glu25868Gln
ENST00000460472.6:c.77227G>C (TTN)	ENSP00000434586.1:p.Glu25743Gln
ENST00000589042.5:c.104422G>C (TTN) MANE Select	ENSP00000467141.1:p.Glu34808Gln
ENST00000591111.5:c.99499G>C (TTN)	ENSP00000465570.1:p.Glu33167Gln
ENST00000615779.4:c.99499G>C (TTN)	ENSP00000483597.1:p.Glu33167Gln
NM_001256850.1:c.99499G>C (TTN)	NP_001243779.1:p.Glu33167Gln
NM_001267550.2:c.104422G>C (TTN) MANE Select	NP_001254479.2:p.Glu34808Gln
NM_003319.4:c.77227G>C (TTN)	NP_003310.4:p.Glu25743Gln
NM_133378.4:c.96718G>C (TTN)	NP_596869.4:p.Glu32240Gln
NM_133432.3:c.77602G>C (TTN)	NP_597676.3:p.Glu25868Gln
NM_133437.4:c.77803G>C (TTN)	NP_597681.4:p.Glu25935Gln
NR_038271.1:n.446+8557C>G (TTN-AS1)
NR_038272.1:n.220-3539C>G (TTN-AS1)
XM_011511729.1:c.103519G>C (TTN)	XP_011510031.1:p.Glu34507Gln
XM_011511730.1:c.77413G>C (TTN)	XP_011510032.1:p.Glu25805Gln
XM_011511731.1:c.77272G>C (TTN)	XP_011510033.1:p.Glu25758Gln
XM_017004819.1:c.103315G>C (TTN)	XP_016860308.1:p.Glu34439Gln
XM_017004820.1:c.98713G>C (TTN)	XP_016860309.1:p.Glu32905Gln
XM_017004821.1:c.98710G>C (TTN)	XP_016860310.1:p.Glu32904Gln
XM_017004822.1:c.95752G>C (TTN)	XP_016860311.1:p.Glu31918Gln
XM_017004823.1:c.77368G>C (TTN)	XP_016860312.1:p.Glu25790Gln
XM_024453094.1:c.98863G>C (TTN)	XP_024308862.1:p.Glu32955Gln
XM_024453095.1:c.98860G>C (TTN)	XP_024308863.1:p.Glu32954Gln
XM_024453096.1:c.98293G>C (TTN)	XP_024308864.1:p.Glu32765Gln
XM_024453097.1:c.95635G>C (TTN)	XP_024308865.1:p.Glu31879Gln
XM_024453098.1:c.95554G>C (TTN)	XP_024308866.1:p.Glu31852Gln
XM_024453099.1:c.77317G>C (TTN)	XP_024308867.1:p.Glu25773Gln
XM_024453100.1:c.67171G>C (TTN)	XP_024308868.1:p.Glu22391Gln