Canonical Allele Identifier: CA349600511

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179431919C>A (hg19) ; chr2:g.178567192C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567192C>A , CM000664.2:g.178567192C>A	GRCh38
NC_000002.11:g.179431919C>A , CM000664.1:g.179431919C>A	GRCh37
NC_000002.10:g.179140165C>A	NCBI36
NG_011618.3:g.268611G>T , LRG_391:g.268611G>T
NG_051363.1:g.49366C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71236G>T (TTN)	ENSP00000343764.6:p.Asp23746Tyr
ENST00000342175.11:c.52321G>T (TTN)	ENSP00000340554.6:p.Asp17441Tyr
ENST00000359218.10:c.52120G>T (TTN)	ENSP00000352154.5:p.Asp17374Tyr
ENST00000342175.10:c.52321G>T (TTN)	ENSP00000340554.6:p.Asp17441Tyr
ENST00000342992.10:c.71236G>T (TTN)	ENSP00000343764.6:p.Asp23746Tyr
ENST00000359218.9:c.52120G>T (TTN)	ENSP00000352154.5:p.Asp17374Tyr
ENST00000460472.6:c.51745G>T (TTN)	ENSP00000434586.1:p.Asp17249Tyr
ENST00000589042.5:c.78940G>T (TTN) MANE Select	ENSP00000467141.1:p.Asp26314Tyr
ENST00000591111.5:c.74017G>T (TTN)	ENSP00000465570.1:p.Asp24673Tyr
ENST00000615779.4:c.74017G>T (TTN)	ENSP00000483597.1:p.Asp24673Tyr
NM_001256850.1:c.74017G>T (TTN)	NP_001243779.1:p.Asp24673Tyr
NM_001267550.2:c.78940G>T (TTN) MANE Select	NP_001254479.2:p.Asp26314Tyr
NM_003319.4:c.51745G>T (TTN)	NP_003310.4:p.Asp17249Tyr
NM_133378.4:c.71236G>T (TTN)	NP_596869.4:p.Asp23746Tyr
NM_133432.3:c.52120G>T (TTN)	NP_597676.3:p.Asp17374Tyr
NM_133437.4:c.52321G>T (TTN)	NP_597681.4:p.Asp17441Tyr
NR_038271.1:n.447-4108C>A (TTN-AS1)
NR_038272.1:n.2044-15380C>A (TTN-AS1)
XM_011511729.1:c.78037G>T (TTN)	XP_011510031.1:p.Asp26013Tyr
XM_011511730.1:c.51931G>T (TTN)	XP_011510032.1:p.Asp17311Tyr
XM_011511731.1:c.51790G>T (TTN)	XP_011510033.1:p.Asp17264Tyr
XM_017004819.1:c.77833G>T (TTN)	XP_016860308.1:p.Asp25945Tyr
XM_017004820.1:c.73231G>T (TTN)	XP_016860309.1:p.Asp24411Tyr
XM_017004821.1:c.73228G>T (TTN)	XP_016860310.1:p.Asp24410Tyr
XM_017004822.1:c.70270G>T (TTN)	XP_016860311.1:p.Asp23424Tyr
XM_017004823.1:c.51886G>T (TTN)	XP_016860312.1:p.Asp17296Tyr
XM_024453094.1:c.73381G>T (TTN)	XP_024308862.1:p.Asp24461Tyr
XM_024453095.1:c.73378G>T (TTN)	XP_024308863.1:p.Asp24460Tyr
XM_024453096.1:c.72811G>T (TTN)	XP_024308864.1:p.Asp24271Tyr
XM_024453097.1:c.70153G>T (TTN)	XP_024308865.1:p.Asp23385Tyr
XM_024453098.1:c.70072G>T (TTN)	XP_024308866.1:p.Asp23358Tyr
XM_024453099.1:c.51835G>T (TTN)	XP_024308867.1:p.Asp17279Tyr
XM_024453100.1:c.41689G>T (TTN)	XP_024308868.1:p.Asp13897Tyr