Canonical Allele Identifier: CA237680

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 191843
• ClinVar RCV Id: RCV000172184
• dbSNP Id: rs201349962
• MyVariant Identifiers: chr2:g.179408834C>G (hg19) ; chr2:g.178544107C>G (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544107C>G , CM000664.2:g.178544107C>G	GRCh38
NC_000002.11:g.179408834C>G , CM000664.1:g.179408834C>G	GRCh37
NC_000002.10:g.179117080C>G	NCBI36
NG_011618.3:g.291696G>C , LRG_391:g.291696G>C
NG_051363.1:g.26281C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88333G>C (TTN)	ENSP00000343764.6:p.Asp29445His
ENST00000342175.11:c.69418G>C (TTN)	ENSP00000340554.6:p.Asp23140His
ENST00000359218.10:c.69217G>C (TTN)	ENSP00000352154.5:p.Asp23073His
ENST00000342175.10:c.69418G>C (TTN)	ENSP00000340554.6:p.Asp23140His
ENST00000342992.10:c.88333G>C (TTN)	ENSP00000343764.6:p.Asp29445His
ENST00000359218.9:c.69217G>C (TTN)	ENSP00000352154.5:p.Asp23073His
ENST00000460472.6:c.68842G>C (TTN)	ENSP00000434586.1:p.Asp22948His
ENST00000589042.5:c.96037G>C (TTN) MANE Select	ENSP00000467141.1:p.Asp32013His
ENST00000591111.5:c.91114G>C (TTN)	ENSP00000465570.1:p.Asp30372His
ENST00000615779.4:c.91114G>C (TTN)	ENSP00000483597.1:p.Asp30372His
NM_001256850.1:c.91114G>C (TTN)	NP_001243779.1:p.Asp30372His
NM_001267550.2:c.96037G>C (TTN) MANE Select	NP_001254479.2:p.Asp32013His
NM_003319.4:c.68842G>C (TTN)	NP_003310.4:p.Asp22948His
NM_133378.4:c.88333G>C (TTN)	NP_596869.4:p.Asp29445His
NM_133432.3:c.69217G>C (TTN)	NP_597676.3:p.Asp23073His
NM_133437.4:c.69418G>C (TTN)	NP_597681.4:p.Asp23140His
NR_038271.1:n.446+20471C>G (TTN-AS1)
NR_038272.1:n.2043+1746C>G (TTN-AS1)
XM_011511729.1:c.95134G>C (TTN)	XP_011510031.1:p.Asp31712His
XM_011511730.1:c.69028G>C (TTN)	XP_011510032.1:p.Asp23010His
XM_011511731.1:c.68887G>C (TTN)	XP_011510033.1:p.Asp22963His
XM_017004819.1:c.94930G>C (TTN)	XP_016860308.1:p.Asp31644His
XM_017004820.1:c.90328G>C (TTN)	XP_016860309.1:p.Asp30110His
XM_017004821.1:c.90325G>C (TTN)	XP_016860310.1:p.Asp30109His
XM_017004822.1:c.87367G>C (TTN)	XP_016860311.1:p.Asp29123His
XM_017004823.1:c.68983G>C (TTN)	XP_016860312.1:p.Asp22995His
XM_024453094.1:c.90478G>C (TTN)	XP_024308862.1:p.Asp30160His
XM_024453095.1:c.90475G>C (TTN)	XP_024308863.1:p.Asp30159His
XM_024453096.1:c.89908G>C (TTN)	XP_024308864.1:p.Asp29970His
XM_024453097.1:c.87250G>C (TTN)	XP_024308865.1:p.Asp29084His
XM_024453098.1:c.87169G>C (TTN)	XP_024308866.1:p.Asp29057His
XM_024453099.1:c.68932G>C (TTN)	XP_024308867.1:p.Asp22978His
XM_024453100.1:c.58786G>C (TTN)	XP_024308868.1:p.Asp19596His