Canonical Allele Identifier: CA349472678

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411605T>G (hg19) ; chr2:g.178546878T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546878T>G , CM000664.2:g.178546878T>G	GRCh38
NC_000002.11:g.179411605T>G , CM000664.1:g.179411605T>G	GRCh37
NC_000002.10:g.179119851T>G	NCBI36
NG_011618.3:g.288925A>C , LRG_391:g.288925A>C
NG_051363.1:g.29052T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86846A>C (TTN)	ENSP00000343764.6:p.Asp28949Ala
ENST00000342175.11:c.67931A>C (TTN)	ENSP00000340554.6:p.Asp22644Ala
ENST00000359218.10:c.67730A>C (TTN)	ENSP00000352154.5:p.Asp22577Ala
ENST00000342175.10:c.67931A>C (TTN)	ENSP00000340554.6:p.Asp22644Ala
ENST00000342992.10:c.86846A>C (TTN)	ENSP00000343764.6:p.Asp28949Ala
ENST00000359218.9:c.67730A>C (TTN)	ENSP00000352154.5:p.Asp22577Ala
ENST00000460472.6:c.67355A>C (TTN)	ENSP00000434586.1:p.Asp22452Ala
ENST00000589042.5:c.94550A>C (TTN) MANE Select	ENSP00000467141.1:p.Asp31517Ala
ENST00000591111.5:c.89627A>C (TTN)	ENSP00000465570.1:p.Asp29876Ala
ENST00000615779.4:c.89627A>C (TTN)	ENSP00000483597.1:p.Asp29876Ala
NM_001256850.1:c.89627A>C (TTN)	NP_001243779.1:p.Asp29876Ala
NM_001267550.2:c.94550A>C (TTN) MANE Select	NP_001254479.2:p.Asp31517Ala
NM_003319.4:c.67355A>C (TTN)	NP_003310.4:p.Asp22452Ala
NM_133378.4:c.86846A>C (TTN)	NP_596869.4:p.Asp28949Ala
NM_133432.3:c.67730A>C (TTN)	NP_597676.3:p.Asp22577Ala
NM_133437.4:c.67931A>C (TTN)	NP_597681.4:p.Asp22644Ala
NR_038271.1:n.446+23242T>G (TTN-AS1)
NR_038272.1:n.2043+4517T>G (TTN-AS1)
XM_011511729.1:c.93647A>C (TTN)	XP_011510031.1:p.Asp31216Ala
XM_011511730.1:c.67541A>C (TTN)	XP_011510032.1:p.Asp22514Ala
XM_011511731.1:c.67400A>C (TTN)	XP_011510033.1:p.Asp22467Ala
XM_017004819.1:c.93443A>C (TTN)	XP_016860308.1:p.Asp31148Ala
XM_017004820.1:c.88841A>C (TTN)	XP_016860309.1:p.Asp29614Ala
XM_017004821.1:c.88838A>C (TTN)	XP_016860310.1:p.Asp29613Ala
XM_017004822.1:c.85880A>C (TTN)	XP_016860311.1:p.Asp28627Ala
XM_017004823.1:c.67496A>C (TTN)	XP_016860312.1:p.Asp22499Ala
XM_024453094.1:c.88991A>C (TTN)	XP_024308862.1:p.Asp29664Ala
XM_024453095.1:c.88988A>C (TTN)	XP_024308863.1:p.Asp29663Ala
XM_024453096.1:c.88421A>C (TTN)	XP_024308864.1:p.Asp29474Ala
XM_024453097.1:c.85763A>C (TTN)	XP_024308865.1:p.Asp28588Ala
XM_024453098.1:c.85682A>C (TTN)	XP_024308866.1:p.Asp28561Ala
XM_024453099.1:c.67445A>C (TTN)	XP_024308867.1:p.Asp22482Ala
XM_024453100.1:c.57299A>C (TTN)	XP_024308868.1:p.Asp19100Ala