Canonical Allele Identifier: CA349488202

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2633931
• ClinVar RCV Id: RCV004529343
• dbSNP Id: rs2050275509
• MyVariant Identifiers: chr2:g.179456575T>C (hg19) ; chr2:g.178591848T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591848T>C , CM000664.2:g.178591848T>C	GRCh38
NC_000002.11:g.179456575T>C , CM000664.1:g.179456575T>C	GRCh37
NC_000002.10:g.179164821T>C	NCBI36
NG_011618.3:g.243955A>G , LRG_391:g.243955A>G
NG_051363.1:g.74022T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.52267A>G (TTN)	ENSP00000343764.6:p.Lys17423Glu
ENST00000342175.11:c.33352A>G (TTN)	ENSP00000340554.6:p.Lys11118Glu
ENST00000359218.10:c.33151A>G (TTN)	ENSP00000352154.5:p.Lys11051Glu
ENST00000342175.10:c.33352A>G (TTN)	ENSP00000340554.6:p.Lys11118Glu
ENST00000342992.10:c.52267A>G (TTN)	ENSP00000343764.6:p.Lys17423Glu
ENST00000359218.9:c.33151A>G (TTN)	ENSP00000352154.5:p.Lys11051Glu
ENST00000460472.6:c.32776A>G (TTN)	ENSP00000434586.1:p.Lys10926Glu
ENST00000589042.5:c.59971A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys19991Glu
ENST00000591111.5:c.55048A>G (TTN)	ENSP00000465570.1:p.Lys18350Glu
ENST00000615779.4:c.55048A>G (TTN)	ENSP00000483597.1:p.Lys18350Glu
NM_001256850.1:c.55048A>G (TTN)	NP_001243779.1:p.Lys18350Glu
NM_001267550.2:c.59971A>G (TTN) MANE Select	NP_001254479.2:p.Lys19991Glu
NM_003319.4:c.32776A>G (TTN)	NP_003310.4:p.Lys10926Glu
NM_133378.4:c.52267A>G (TTN)	NP_596869.4:p.Lys17423Glu
NM_133432.3:c.33151A>G (TTN)	NP_597676.3:p.Lys11051Glu
NM_133437.4:c.33352A>G (TTN)	NP_597681.4:p.Lys11118Glu
NR_038271.1:n.597-5748T>C (TTN-AS1)
NR_038272.1:n.3364+534T>C (TTN-AS1)
XM_011511729.1:c.59068A>G (TTN)	XP_011510031.1:p.Lys19690Glu
XM_011511730.1:c.32962A>G (TTN)	XP_011510032.1:p.Lys10988Glu
XM_011511731.1:c.32821A>G (TTN)	XP_011510033.1:p.Lys10941Glu
XM_017004819.1:c.58864A>G (TTN)	XP_016860308.1:p.Lys19622Glu
XM_017004820.1:c.54262A>G (TTN)	XP_016860309.1:p.Lys18088Glu
XM_017004821.1:c.54259A>G (TTN)	XP_016860310.1:p.Lys18087Glu
XM_017004822.1:c.51301A>G (TTN)	XP_016860311.1:p.Lys17101Glu
XM_017004823.1:c.32917A>G (TTN)	XP_016860312.1:p.Lys10973Glu
XM_024453094.1:c.54412A>G (TTN)	XP_024308862.1:p.Lys18138Glu
XM_024453095.1:c.54409A>G (TTN)	XP_024308863.1:p.Lys18137Glu
XM_024453096.1:c.53842A>G (TTN)	XP_024308864.1:p.Lys17948Glu
XM_024453097.1:c.51184A>G (TTN)	XP_024308865.1:p.Lys17062Glu
XM_024453098.1:c.51103A>G (TTN)	XP_024308866.1:p.Lys17035Glu
XM_024453099.1:c.32866A>G (TTN)	XP_024308867.1:p.Lys10956Glu
XM_024453100.1:c.22720A>G (TTN)	XP_024308868.1:p.Lys7574Glu