Canonical Allele Identifier: CA309261

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202386
• ClinVar RCV Id: RCV000184233 ; RCV002516944
• dbSNP Id: rs794729271
• MyVariant Identifiers: chr2:g.179473137C>T (hg19) ; chr2:g.178608410C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178608410C>T , CM000664.2:g.178608410C>T	GRCh38
NC_000002.11:g.179473137C>T , CM000664.1:g.179473137C>T	GRCh37
NC_000002.10:g.179181382C>T	NCBI36
NG_011618.3:g.227393G>A , LRG_391:g.227393G>A
NG_051363.1:g.90584C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.44769G>A (TTN)	ENSP00000343764.6:p.Trp14923Ter
ENST00000342175.11:c.25854G>A (TTN)	ENSP00000340554.6:p.Trp8618Ter
ENST00000359218.10:c.25653G>A (TTN)	ENSP00000352154.5:p.Trp8551Ter
ENST00000342175.10:c.25854G>A (TTN)	ENSP00000340554.6:p.Trp8618Ter
ENST00000342992.10:c.44769G>A (TTN)	ENSP00000343764.6:p.Trp14923Ter
ENST00000359218.9:c.25653G>A (TTN)	ENSP00000352154.5:p.Trp8551Ter
ENST00000460472.6:c.25278G>A (TTN)	ENSP00000434586.1:p.Trp8426Ter
ENST00000589042.5:c.52473G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp17491Ter
ENST00000591111.5:c.47550G>A (TTN)	ENSP00000465570.1:p.Trp15850Ter
ENST00000615779.4:c.47550G>A (TTN)	ENSP00000483597.1:p.Trp15850Ter
NM_001256850.1:c.47550G>A (TTN)	NP_001243779.1:p.Trp15850Ter
NM_001267550.2:c.52473G>A (TTN) MANE Select	NP_001254479.2:p.Trp17491Ter
NM_003319.4:c.25278G>A (TTN)	NP_003310.4:p.Trp8426Ter
NM_133378.4:c.44769G>A (TTN)	NP_596869.4:p.Trp14923Ter
NM_133432.3:c.25653G>A (TTN)	NP_597676.3:p.Trp8551Ter
NM_133437.4:c.25854G>A (TTN)	NP_597681.4:p.Trp8618Ter
NR_038271.1:n.782+144C>T (TTN-AS1)
XM_011511729.1:c.51570G>A (TTN)	XP_011510031.1:p.Trp17190Ter
XM_011511730.1:c.25464G>A (TTN)	XP_011510032.1:p.Trp8488Ter
XM_011511731.1:c.25323G>A (TTN)	XP_011510033.1:p.Trp8441Ter
XM_017004819.1:c.51366G>A (TTN)	XP_016860308.1:p.Trp17122Ter
XM_017004820.1:c.46764G>A (TTN)	XP_016860309.1:p.Trp15588Ter
XM_017004821.1:c.46761G>A (TTN)	XP_016860310.1:p.Trp15587Ter
XM_017004822.1:c.43803G>A (TTN)	XP_016860311.1:p.Trp14601Ter
XM_017004823.1:c.25419G>A (TTN)	XP_016860312.1:p.Trp8473Ter
XM_024453094.1:c.46914G>A (TTN)	XP_024308862.1:p.Trp15638Ter
XM_024453095.1:c.46911G>A (TTN)	XP_024308863.1:p.Trp15637Ter
XM_024453096.1:c.46344G>A (TTN)	XP_024308864.1:p.Trp15448Ter
XM_024453097.1:c.43686G>A (TTN)	XP_024308865.1:p.Trp14562Ter
XM_024453098.1:c.43605G>A (TTN)	XP_024308866.1:p.Trp14535Ter
XM_024453099.1:c.25368G>A (TTN)	XP_024308867.1:p.Trp8456Ter
XM_024453100.1:c.15222G>A (TTN)	XP_024308868.1:p.Trp5074Ter