Canonical Allele Identifier: CA349407091

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2923414
• ClinVar RCV Id: RCV003780532
• dbSNP Id: rs1414538562
• gnomAD v2: 2-179395267-A-G
• gnomAD v3: 2-178530540-A-G
• gnomAD v4: 2-178530540-A-G
• MyVariant Identifiers: chr2:g.179395267A>G (hg19) ; chr2:g.178530540A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530540A>G , CM000664.2:g.178530540A>G	GRCh38
NC_000002.11:g.179395267A>G , CM000664.1:g.179395267A>G	GRCh37
NC_000002.10:g.179103513A>G	NCBI36
NG_011618.3:g.305263T>C , LRG_391:g.305263T>C
NG_051363.1:g.12714A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98371T>C (TTN)	ENSP00000343764.6:p.Cys32791Arg
ENST00000342175.11:c.79456T>C (TTN)	ENSP00000340554.6:p.Cys26486Arg
ENST00000359218.10:c.79255T>C (TTN)	ENSP00000352154.5:p.Cys26419Arg
ENST00000342175.10:c.79456T>C (TTN)	ENSP00000340554.6:p.Cys26486Arg
ENST00000342992.10:c.98371T>C (TTN)	ENSP00000343764.6:p.Cys32791Arg
ENST00000359218.9:c.79255T>C (TTN)	ENSP00000352154.5:p.Cys26419Arg
ENST00000460472.6:c.78880T>C (TTN)	ENSP00000434586.1:p.Cys26294Arg
ENST00000589042.5:c.106075T>C (TTN) MANE Select	ENSP00000467141.1:p.Cys35359Arg
ENST00000591111.5:c.101152T>C (TTN)	ENSP00000465570.1:p.Cys33718Arg
ENST00000615779.4:c.101152T>C (TTN)	ENSP00000483597.1:p.Cys33718Arg
NM_001256850.1:c.101152T>C (TTN)	NP_001243779.1:p.Cys33718Arg
NM_001267550.2:c.106075T>C (TTN) MANE Select	NP_001254479.2:p.Cys35359Arg
NM_003319.4:c.78880T>C (TTN)	NP_003310.4:p.Cys26294Arg
NM_133378.4:c.98371T>C (TTN)	NP_596869.4:p.Cys32791Arg
NM_133432.3:c.79255T>C (TTN)	NP_597676.3:p.Cys26419Arg
NM_133437.4:c.79456T>C (TTN)	NP_597681.4:p.Cys26486Arg
NR_038271.1:n.446+6904A>G (TTN-AS1)
NR_038272.1:n.220-5192A>G (TTN-AS1)
XM_011511729.1:c.105172T>C (TTN)	XP_011510031.1:p.Cys35058Arg
XM_011511730.1:c.79066T>C (TTN)	XP_011510032.1:p.Cys26356Arg
XM_011511731.1:c.78925T>C (TTN)	XP_011510033.1:p.Cys26309Arg
XM_017004819.1:c.104968T>C (TTN)	XP_016860308.1:p.Cys34990Arg
XM_017004820.1:c.100366T>C (TTN)	XP_016860309.1:p.Cys33456Arg
XM_017004821.1:c.100363T>C (TTN)	XP_016860310.1:p.Cys33455Arg
XM_017004822.1:c.97405T>C (TTN)	XP_016860311.1:p.Cys32469Arg
XM_017004823.1:c.79021T>C (TTN)	XP_016860312.1:p.Cys26341Arg
XM_024453094.1:c.100516T>C (TTN)	XP_024308862.1:p.Cys33506Arg
XM_024453095.1:c.100513T>C (TTN)	XP_024308863.1:p.Cys33505Arg
XM_024453096.1:c.99946T>C (TTN)	XP_024308864.1:p.Cys33316Arg
XM_024453097.1:c.97288T>C (TTN)	XP_024308865.1:p.Cys32430Arg
XM_024453098.1:c.97207T>C (TTN)	XP_024308866.1:p.Cys32403Arg
XM_024453099.1:c.78970T>C (TTN)	XP_024308867.1:p.Cys26324Arg
XM_024453100.1:c.68824T>C (TTN)	XP_024308868.1:p.Cys22942Arg