Canonical Allele Identifier: CA60968721

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1054918425
• gnomAD v2: 2-179455733-C-T
• gnomAD v4: 2-178591006-C-T
• MyVariant Identifiers: chr2:g.179455733C>T (hg19) ; chr2:g.178591006C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591006C>T , CM000664.2:g.178591006C>T	GRCh38
NC_000002.11:g.179455733C>T , CM000664.1:g.179455733C>T	GRCh37
NC_000002.10:g.179163979C>T	NCBI36
NG_011618.3:g.244797G>A , LRG_391:g.244797G>A
NG_051363.1:g.73180C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53015G>A (TTN)	ENSP00000343764.6:p.Cys17672Tyr
ENST00000342175.11:c.34100G>A (TTN)	ENSP00000340554.6:p.Cys11367Tyr
ENST00000359218.10:c.33899G>A (TTN)	ENSP00000352154.5:p.Cys11300Tyr
ENST00000342175.10:c.34100G>A (TTN)	ENSP00000340554.6:p.Cys11367Tyr
ENST00000342992.10:c.53015G>A (TTN)	ENSP00000343764.6:p.Cys17672Tyr
ENST00000359218.9:c.33899G>A (TTN)	ENSP00000352154.5:p.Cys11300Tyr
ENST00000460472.6:c.33524G>A (TTN)	ENSP00000434586.1:p.Cys11175Tyr
ENST00000589042.5:c.60719G>A (TTN) MANE Select	ENSP00000467141.1:p.Cys20240Tyr
ENST00000591111.5:c.55796G>A (TTN)	ENSP00000465570.1:p.Cys18599Tyr
ENST00000615779.4:c.55796G>A (TTN)	ENSP00000483597.1:p.Cys18599Tyr
NM_001256850.1:c.55796G>A (TTN)	NP_001243779.1:p.Cys18599Tyr
NM_001267550.2:c.60719G>A (TTN) MANE Select	NP_001254479.2:p.Cys20240Tyr
NM_003319.4:c.33524G>A (TTN)	NP_003310.4:p.Cys11175Tyr
NM_133378.4:c.53015G>A (TTN)	NP_596869.4:p.Cys17672Tyr
NM_133432.3:c.33899G>A (TTN)	NP_597676.3:p.Cys11300Tyr
NM_133437.4:c.34100G>A (TTN)	NP_597681.4:p.Cys11367Tyr
NR_038271.1:n.597-6590C>T (TTN-AS1)
NR_038272.1:n.3189-133C>T (TTN-AS1)
XM_011511729.1:c.59816G>A (TTN)	XP_011510031.1:p.Cys19939Tyr
XM_011511730.1:c.33710G>A (TTN)	XP_011510032.1:p.Cys11237Tyr
XM_011511731.1:c.33569G>A (TTN)	XP_011510033.1:p.Cys11190Tyr
XM_017004819.1:c.59612G>A (TTN)	XP_016860308.1:p.Cys19871Tyr
XM_017004820.1:c.55010G>A (TTN)	XP_016860309.1:p.Cys18337Tyr
XM_017004821.1:c.55007G>A (TTN)	XP_016860310.1:p.Cys18336Tyr
XM_017004822.1:c.52049G>A (TTN)	XP_016860311.1:p.Cys17350Tyr
XM_017004823.1:c.33665G>A (TTN)	XP_016860312.1:p.Cys11222Tyr
XM_024453094.1:c.55160G>A (TTN)	XP_024308862.1:p.Cys18387Tyr
XM_024453095.1:c.55157G>A (TTN)	XP_024308863.1:p.Cys18386Tyr
XM_024453096.1:c.54590G>A (TTN)	XP_024308864.1:p.Cys18197Tyr
XM_024453097.1:c.51932G>A (TTN)	XP_024308865.1:p.Cys17311Tyr
XM_024453098.1:c.51851G>A (TTN)	XP_024308866.1:p.Cys17284Tyr
XM_024453099.1:c.33614G>A (TTN)	XP_024308867.1:p.Cys11205Tyr
XM_024453100.1:c.23468G>A (TTN)	XP_024308868.1:p.Cys7823Tyr