Canonical Allele Identifier: CA309273

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202390
• ClinVar RCV Id: RCV000184238 ; RCV000813378
• dbSNP Id: rs794729274
• MyVariant Identifiers: chr2:g.179468854C>T (hg19) ; chr2:g.178604127C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178604127C>T , CM000664.2:g.178604127C>T	GRCh38
NC_000002.11:g.179468854C>T , CM000664.1:g.179468854C>T	GRCh37
NC_000002.10:g.179177099C>T	NCBI36
NG_011618.3:g.231676G>A , LRG_391:g.231676G>A
NG_051363.1:g.86301C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.46856G>A (TTN)	ENSP00000343764.6:p.Trp15619Ter
ENST00000342175.11:c.27941G>A (TTN)	ENSP00000340554.6:p.Trp9314Ter
ENST00000359218.10:c.27740G>A (TTN)	ENSP00000352154.5:p.Trp9247Ter
ENST00000342175.10:c.27941G>A (TTN)	ENSP00000340554.6:p.Trp9314Ter
ENST00000342992.10:c.46856G>A (TTN)	ENSP00000343764.6:p.Trp15619Ter
ENST00000359218.9:c.27740G>A (TTN)	ENSP00000352154.5:p.Trp9247Ter
ENST00000460472.6:c.27365G>A (TTN)	ENSP00000434586.1:p.Trp9122Ter
ENST00000589042.5:c.54560G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp18187Ter
ENST00000591111.5:c.49637G>A (TTN)	ENSP00000465570.1:p.Trp16546Ter
ENST00000615779.4:c.49637G>A (TTN)	ENSP00000483597.1:p.Trp16546Ter
NM_001256850.1:c.49637G>A (TTN)	NP_001243779.1:p.Trp16546Ter
NM_001267550.2:c.54560G>A (TTN) MANE Select	NP_001254479.2:p.Trp18187Ter
NM_003319.4:c.27365G>A (TTN)	NP_003310.4:p.Trp9122Ter
NM_133378.4:c.46856G>A (TTN)	NP_596869.4:p.Trp15619Ter
NM_133432.3:c.27740G>A (TTN)	NP_597676.3:p.Trp9247Ter
NM_133437.4:c.27941G>A (TTN)	NP_597681.4:p.Trp9314Ter
NR_038271.1:n.683-4040C>T (TTN-AS1)
NR_038272.1:n.3918-604C>T (TTN-AS1)
XM_011511729.1:c.53657G>A (TTN)	XP_011510031.1:p.Trp17886Ter
XM_011511730.1:c.27551G>A (TTN)	XP_011510032.1:p.Trp9184Ter
XM_011511731.1:c.27410G>A (TTN)	XP_011510033.1:p.Trp9137Ter
XM_017004819.1:c.53453G>A (TTN)	XP_016860308.1:p.Trp17818Ter
XM_017004820.1:c.48851G>A (TTN)	XP_016860309.1:p.Trp16284Ter
XM_017004821.1:c.48848G>A (TTN)	XP_016860310.1:p.Trp16283Ter
XM_017004822.1:c.45890G>A (TTN)	XP_016860311.1:p.Trp15297Ter
XM_017004823.1:c.27506G>A (TTN)	XP_016860312.1:p.Trp9169Ter
XM_024453094.1:c.49001G>A (TTN)	XP_024308862.1:p.Trp16334Ter
XM_024453095.1:c.48998G>A (TTN)	XP_024308863.1:p.Trp16333Ter
XM_024453096.1:c.48431G>A (TTN)	XP_024308864.1:p.Trp16144Ter
XM_024453097.1:c.45773G>A (TTN)	XP_024308865.1:p.Trp15258Ter
XM_024453098.1:c.45692G>A (TTN)	XP_024308866.1:p.Trp15231Ter
XM_024453099.1:c.27455G>A (TTN)	XP_024308867.1:p.Trp9152Ter
XM_024453100.1:c.17309G>A (TTN)	XP_024308868.1:p.Trp5770Ter