Canonical Allele Identifier: CA349480050

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178591012-T-C
• MyVariant Identifiers: chr2:g.179455739T>C (hg19) ; chr2:g.178591012T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591012T>C , CM000664.2:g.178591012T>C	GRCh38
NC_000002.11:g.179455739T>C , CM000664.1:g.179455739T>C	GRCh37
NC_000002.10:g.179163985T>C	NCBI36
NG_011618.3:g.244791A>G , LRG_391:g.244791A>G
NG_051363.1:g.73186T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53009A>G (TTN)	ENSP00000343764.6:p.Lys17670Arg
ENST00000342175.11:c.34094A>G (TTN)	ENSP00000340554.6:p.Lys11365Arg
ENST00000359218.10:c.33893A>G (TTN)	ENSP00000352154.5:p.Lys11298Arg
ENST00000342175.10:c.34094A>G (TTN)	ENSP00000340554.6:p.Lys11365Arg
ENST00000342992.10:c.53009A>G (TTN)	ENSP00000343764.6:p.Lys17670Arg
ENST00000359218.9:c.33893A>G (TTN)	ENSP00000352154.5:p.Lys11298Arg
ENST00000460472.6:c.33518A>G (TTN)	ENSP00000434586.1:p.Lys11173Arg
ENST00000589042.5:c.60713A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys20238Arg
ENST00000591111.5:c.55790A>G (TTN)	ENSP00000465570.1:p.Lys18597Arg
ENST00000615779.4:c.55790A>G (TTN)	ENSP00000483597.1:p.Lys18597Arg
NM_001256850.1:c.55790A>G (TTN)	NP_001243779.1:p.Lys18597Arg
NM_001267550.2:c.60713A>G (TTN) MANE Select	NP_001254479.2:p.Lys20238Arg
NM_003319.4:c.33518A>G (TTN)	NP_003310.4:p.Lys11173Arg
NM_133378.4:c.53009A>G (TTN)	NP_596869.4:p.Lys17670Arg
NM_133432.3:c.33893A>G (TTN)	NP_597676.3:p.Lys11298Arg
NM_133437.4:c.34094A>G (TTN)	NP_597681.4:p.Lys11365Arg
NR_038271.1:n.597-6584T>C (TTN-AS1)
NR_038272.1:n.3189-127T>C (TTN-AS1)
XM_011511729.1:c.59810A>G (TTN)	XP_011510031.1:p.Lys19937Arg
XM_011511730.1:c.33704A>G (TTN)	XP_011510032.1:p.Lys11235Arg
XM_011511731.1:c.33563A>G (TTN)	XP_011510033.1:p.Lys11188Arg
XM_017004819.1:c.59606A>G (TTN)	XP_016860308.1:p.Lys19869Arg
XM_017004820.1:c.55004A>G (TTN)	XP_016860309.1:p.Lys18335Arg
XM_017004821.1:c.55001A>G (TTN)	XP_016860310.1:p.Lys18334Arg
XM_017004822.1:c.52043A>G (TTN)	XP_016860311.1:p.Lys17348Arg
XM_017004823.1:c.33659A>G (TTN)	XP_016860312.1:p.Lys11220Arg
XM_024453094.1:c.55154A>G (TTN)	XP_024308862.1:p.Lys18385Arg
XM_024453095.1:c.55151A>G (TTN)	XP_024308863.1:p.Lys18384Arg
XM_024453096.1:c.54584A>G (TTN)	XP_024308864.1:p.Lys18195Arg
XM_024453097.1:c.51926A>G (TTN)	XP_024308865.1:p.Lys17309Arg
XM_024453098.1:c.51845A>G (TTN)	XP_024308866.1:p.Lys17282Arg
XM_024453099.1:c.33608A>G (TTN)	XP_024308867.1:p.Lys11203Arg
XM_024453100.1:c.23462A>G (TTN)	XP_024308868.1:p.Lys7821Arg