Canonical Allele Identifier: CA430267247

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179456576G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591849G>A , CM000664.2:g.178591849G>A	GRCh38
NC_000002.11:g.179456576G>A , CM000664.1:g.179456576G>A	GRCh37
NC_000002.10:g.179164822G>A	NCBI36
NG_011618.3:g.243954C>T , LRG_391:g.243954C>T
NG_051363.1:g.74023G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.52266C>T (TTN)	ENSP00000343764.6:p.Asp17422=
ENST00000342175.11:c.33351C>T (TTN)	ENSP00000340554.6:p.Asp11117=
ENST00000359218.10:c.33150C>T (TTN)	ENSP00000352154.5:p.Asp11050=
ENST00000342175.10:c.33351C>T (TTN)	ENSP00000340554.6:p.Asp11117=
ENST00000342992.10:c.52266C>T (TTN)	ENSP00000343764.6:p.Asp17422=
ENST00000359218.9:c.33150C>T (TTN)	ENSP00000352154.5:p.Asp11050=
ENST00000460472.6:c.32775C>T (TTN)	ENSP00000434586.1:p.Asp10925=
ENST00000589042.5:c.59970C>T (TTN) MANE Select	ENSP00000467141.1:p.Asp19990=
ENST00000591111.5:c.55047C>T (TTN)	ENSP00000465570.1:p.Asp18349=
ENST00000615779.4:c.55047C>T (TTN)	ENSP00000483597.1:p.Asp18349=
NM_001256850.1:c.55047C>T (TTN)	NP_001243779.1:p.Asp18349=
NM_001267550.2:c.59970C>T (TTN) MANE Select	NP_001254479.2:p.Asp19990=
NM_003319.4:c.32775C>T (TTN)	NP_003310.4:p.Asp10925=
NM_133378.4:c.52266C>T (TTN)	NP_596869.4:p.Asp17422=
NM_133432.3:c.33150C>T (TTN)	NP_597676.3:p.Asp11050=
NM_133437.4:c.33351C>T (TTN)	NP_597681.4:p.Asp11117=
NR_038271.1:n.597-5747G>A (TTN-AS1)
NR_038272.1:n.3364+535G>A (TTN-AS1)
XM_011511729.1:c.59067C>T (TTN)	XP_011510031.1:p.Asp19689=
XM_011511730.1:c.32961C>T (TTN)	XP_011510032.1:p.Asp10987=
XM_011511731.1:c.32820C>T (TTN)	XP_011510033.1:p.Asp10940=
XM_017004819.1:c.58863C>T (TTN)	XP_016860308.1:p.Asp19621=
XM_017004820.1:c.54261C>T (TTN)	XP_016860309.1:p.Asp18087=
XM_017004821.1:c.54258C>T (TTN)	XP_016860310.1:p.Asp18086=
XM_017004822.1:c.51300C>T (TTN)	XP_016860311.1:p.Asp17100=
XM_017004823.1:c.32916C>T (TTN)	XP_016860312.1:p.Asp10972=
XM_024453094.1:c.54411C>T (TTN)	XP_024308862.1:p.Asp18137=
XM_024453095.1:c.54408C>T (TTN)	XP_024308863.1:p.Asp18136=
XM_024453096.1:c.53841C>T (TTN)	XP_024308864.1:p.Asp17947=
XM_024453097.1:c.51183C>T (TTN)	XP_024308865.1:p.Asp17061=
XM_024453098.1:c.51102C>T (TTN)	XP_024308866.1:p.Asp17034=
XM_024453099.1:c.32865C>T (TTN)	XP_024308867.1:p.Asp10955=
XM_024453100.1:c.22719C>T (TTN)	XP_024308868.1:p.Asp7573=