Canonical Allele Identifier: CA349616271

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179434602T>G (hg19) ; chr2:g.178569875T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569875T>G , CM000664.2:g.178569875T>G	GRCh38
NC_000002.11:g.179434602T>G , CM000664.1:g.179434602T>G	GRCh37
NC_000002.10:g.179142848T>G	NCBI36
NG_011618.3:g.265928A>C , LRG_391:g.265928A>C
NG_051363.1:g.52049T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.68553A>C (TTN)	ENSP00000343764.6:p.Arg22851Ser
ENST00000342175.11:c.49638A>C (TTN)	ENSP00000340554.6:p.Arg16546Ser
ENST00000359218.10:c.49437A>C (TTN)	ENSP00000352154.5:p.Arg16479Ser
ENST00000342175.10:c.49638A>C (TTN)	ENSP00000340554.6:p.Arg16546Ser
ENST00000342992.10:c.68553A>C (TTN)	ENSP00000343764.6:p.Arg22851Ser
ENST00000359218.9:c.49437A>C (TTN)	ENSP00000352154.5:p.Arg16479Ser
ENST00000460472.6:c.49062A>C (TTN)	ENSP00000434586.1:p.Arg16354Ser
ENST00000589042.5:c.76257A>C (TTN) MANE Select	ENSP00000467141.1:p.Arg25419Ser
ENST00000591111.5:c.71334A>C (TTN)	ENSP00000465570.1:p.Arg23778Ser
ENST00000615779.4:c.71334A>C (TTN)	ENSP00000483597.1:p.Arg23778Ser
NM_001256850.1:c.71334A>C (TTN)	NP_001243779.1:p.Arg23778Ser
NM_001267550.2:c.76257A>C (TTN) MANE Select	NP_001254479.2:p.Arg25419Ser
NM_003319.4:c.49062A>C (TTN)	NP_003310.4:p.Arg16354Ser
NM_133378.4:c.68553A>C (TTN)	NP_596869.4:p.Arg22851Ser
NM_133432.3:c.49437A>C (TTN)	NP_597676.3:p.Arg16479Ser
NM_133437.4:c.49638A>C (TTN)	NP_597681.4:p.Arg16546Ser
NR_038271.1:n.447-1425T>G (TTN-AS1)
NR_038272.1:n.2044-12697T>G (TTN-AS1)
XM_011511729.1:c.75354A>C (TTN)	XP_011510031.1:p.Arg25118Ser
XM_011511730.1:c.49248A>C (TTN)	XP_011510032.1:p.Arg16416Ser
XM_011511731.1:c.49107A>C (TTN)	XP_011510033.1:p.Arg16369Ser
XM_017004819.1:c.75150A>C (TTN)	XP_016860308.1:p.Arg25050Ser
XM_017004820.1:c.70548A>C (TTN)	XP_016860309.1:p.Arg23516Ser
XM_017004821.1:c.70545A>C (TTN)	XP_016860310.1:p.Arg23515Ser
XM_017004822.1:c.67587A>C (TTN)	XP_016860311.1:p.Arg22529Ser
XM_017004823.1:c.49203A>C (TTN)	XP_016860312.1:p.Arg16401Ser
XM_024453094.1:c.70698A>C (TTN)	XP_024308862.1:p.Arg23566Ser
XM_024453095.1:c.70695A>C (TTN)	XP_024308863.1:p.Arg23565Ser
XM_024453096.1:c.70128A>C (TTN)	XP_024308864.1:p.Arg23376Ser
XM_024453097.1:c.67470A>C (TTN)	XP_024308865.1:p.Arg22490Ser
XM_024453098.1:c.67389A>C (TTN)	XP_024308866.1:p.Arg22463Ser
XM_024453099.1:c.49152A>C (TTN)	XP_024308867.1:p.Arg16384Ser
XM_024453100.1:c.39006A>C (TTN)	XP_024308868.1:p.Arg13002Ser