Canonical Allele Identifier: CA349446699

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 446427
• ClinVar RCV Id: RCV000695044 ; RCV000515670 ; RCV002350135
• dbSNP Id: rs1553636324
• MyVariant Identifiers: chr2:g.179451927G>T (hg19) ; chr2:g.178587200G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178587200G>T , CM000664.2:g.178587200G>T	GRCh38
NC_000002.11:g.179451927G>T , CM000664.1:g.179451927G>T	GRCh37
NC_000002.10:g.179160173G>T	NCBI36
NG_011618.3:g.248603C>A , LRG_391:g.248603C>A
NG_051363.1:g.69374G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.56307C>A (TTN)	ENSP00000343764.6:p.Tyr18769Ter
ENST00000342175.11:c.37392C>A (TTN)	ENSP00000340554.6:p.Tyr12464Ter
ENST00000359218.10:c.37191C>A (TTN)	ENSP00000352154.5:p.Tyr12397Ter
ENST00000342175.10:c.37392C>A (TTN)	ENSP00000340554.6:p.Tyr12464Ter
ENST00000342992.10:c.56307C>A (TTN)	ENSP00000343764.6:p.Tyr18769Ter
ENST00000359218.9:c.37191C>A (TTN)	ENSP00000352154.5:p.Tyr12397Ter
ENST00000460472.6:c.36816C>A (TTN)	ENSP00000434586.1:p.Tyr12272Ter
ENST00000589042.5:c.64011C>A (TTN) MANE Select	ENSP00000467141.1:p.Tyr21337Ter
ENST00000591111.5:c.59088C>A (TTN)	ENSP00000465570.1:p.Tyr19696Ter
ENST00000615779.4:c.59088C>A (TTN)	ENSP00000483597.1:p.Tyr19696Ter
NM_001256850.1:c.59088C>A (TTN)	NP_001243779.1:p.Tyr19696Ter
NM_001267550.2:c.64011C>A (TTN) MANE Select	NP_001254479.2:p.Tyr21337Ter
NM_003319.4:c.36816C>A (TTN)	NP_003310.4:p.Tyr12272Ter
NM_133378.4:c.56307C>A (TTN)	NP_596869.4:p.Tyr18769Ter
NM_133432.3:c.37191C>A (TTN)	NP_597676.3:p.Tyr12397Ter
NM_133437.4:c.37392C>A (TTN)	NP_597681.4:p.Tyr12464Ter
NR_038271.1:n.597-10396G>T (TTN-AS1)
NR_038272.1:n.3188+2207G>T (TTN-AS1)
XM_011511729.1:c.63108C>A (TTN)	XP_011510031.1:p.Tyr21036Ter
XM_011511730.1:c.37002C>A (TTN)	XP_011510032.1:p.Tyr12334Ter
XM_011511731.1:c.36861C>A (TTN)	XP_011510033.1:p.Tyr12287Ter
XM_017004819.1:c.62904C>A (TTN)	XP_016860308.1:p.Tyr20968Ter
XM_017004820.1:c.58302C>A (TTN)	XP_016860309.1:p.Tyr19434Ter
XM_017004821.1:c.58299C>A (TTN)	XP_016860310.1:p.Tyr19433Ter
XM_017004822.1:c.55341C>A (TTN)	XP_016860311.1:p.Tyr18447Ter
XM_017004823.1:c.36957C>A (TTN)	XP_016860312.1:p.Tyr12319Ter
XM_024453094.1:c.58452C>A (TTN)	XP_024308862.1:p.Tyr19484Ter
XM_024453095.1:c.58449C>A (TTN)	XP_024308863.1:p.Tyr19483Ter
XM_024453096.1:c.57882C>A (TTN)	XP_024308864.1:p.Tyr19294Ter
XM_024453097.1:c.55224C>A (TTN)	XP_024308865.1:p.Tyr18408Ter
XM_024453098.1:c.55143C>A (TTN)	XP_024308866.1:p.Tyr18381Ter
XM_024453099.1:c.36906C>A (TTN)	XP_024308867.1:p.Tyr12302Ter
XM_024453100.1:c.26760C>A (TTN)	XP_024308868.1:p.Tyr8920Ter