Canonical Allele Identifier: CA349451127

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408645T>G (hg19) ; chr2:g.178543918T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543918T>G , CM000664.2:g.178543918T>G	GRCh38
NC_000002.11:g.179408645T>G , CM000664.1:g.179408645T>G	GRCh37
NC_000002.10:g.179116891T>G	NCBI36
NG_011618.3:g.291885A>C , LRG_391:g.291885A>C
NG_051363.1:g.26092T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88522A>C (TTN)	ENSP00000343764.6:p.Asn29508His
ENST00000342175.11:c.69607A>C (TTN)	ENSP00000340554.6:p.Asn23203His
ENST00000359218.10:c.69406A>C (TTN)	ENSP00000352154.5:p.Asn23136His
ENST00000342175.10:c.69607A>C (TTN)	ENSP00000340554.6:p.Asn23203His
ENST00000342992.10:c.88522A>C (TTN)	ENSP00000343764.6:p.Asn29508His
ENST00000359218.9:c.69406A>C (TTN)	ENSP00000352154.5:p.Asn23136His
ENST00000460472.6:c.69031A>C (TTN)	ENSP00000434586.1:p.Asn23011His
ENST00000589042.5:c.96226A>C (TTN) MANE Select	ENSP00000467141.1:p.Asn32076His
ENST00000591111.5:c.91303A>C (TTN)	ENSP00000465570.1:p.Asn30435His
ENST00000615779.4:c.91303A>C (TTN)	ENSP00000483597.1:p.Asn30435His
NM_001256850.1:c.91303A>C (TTN)	NP_001243779.1:p.Asn30435His
NM_001267550.2:c.96226A>C (TTN) MANE Select	NP_001254479.2:p.Asn32076His
NM_003319.4:c.69031A>C (TTN)	NP_003310.4:p.Asn23011His
NM_133378.4:c.88522A>C (TTN)	NP_596869.4:p.Asn29508His
NM_133432.3:c.69406A>C (TTN)	NP_597676.3:p.Asn23136His
NM_133437.4:c.69607A>C (TTN)	NP_597681.4:p.Asn23203His
NR_038271.1:n.446+20282T>G (TTN-AS1)
NR_038272.1:n.2043+1557T>G (TTN-AS1)
XM_011511729.1:c.95323A>C (TTN)	XP_011510031.1:p.Asn31775His
XM_011511730.1:c.69217A>C (TTN)	XP_011510032.1:p.Asn23073His
XM_011511731.1:c.69076A>C (TTN)	XP_011510033.1:p.Asn23026His
XM_017004819.1:c.95119A>C (TTN)	XP_016860308.1:p.Asn31707His
XM_017004820.1:c.90517A>C (TTN)	XP_016860309.1:p.Asn30173His
XM_017004821.1:c.90514A>C (TTN)	XP_016860310.1:p.Asn30172His
XM_017004822.1:c.87556A>C (TTN)	XP_016860311.1:p.Asn29186His
XM_017004823.1:c.69172A>C (TTN)	XP_016860312.1:p.Asn23058His
XM_024453094.1:c.90667A>C (TTN)	XP_024308862.1:p.Asn30223His
XM_024453095.1:c.90664A>C (TTN)	XP_024308863.1:p.Asn30222His
XM_024453096.1:c.90097A>C (TTN)	XP_024308864.1:p.Asn30033His
XM_024453097.1:c.87439A>C (TTN)	XP_024308865.1:p.Asn29147His
XM_024453098.1:c.87358A>C (TTN)	XP_024308866.1:p.Asn29120His
XM_024453099.1:c.69121A>C (TTN)	XP_024308867.1:p.Asn23041His
XM_024453100.1:c.58975A>C (TTN)	XP_024308868.1:p.Asn19659His