Canonical Allele Identifier: CA349411885

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1575244797
• gnomAD v4: 2-178532244-C-A
• MyVariant Identifiers: chr2:g.179396971C>A (hg19) ; chr2:g.178532244C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532244C>A , CM000664.2:g.178532244C>A	GRCh38
NC_000002.11:g.179396971C>A , CM000664.1:g.179396971C>A	GRCh37
NC_000002.10:g.179105217C>A	NCBI36
NG_011618.3:g.303559G>T , LRG_391:g.303559G>T
NG_051363.1:g.14418C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96667G>T (TTN)	ENSP00000343764.6:p.Asp32223Tyr
ENST00000342175.11:c.77752G>T (TTN)	ENSP00000340554.6:p.Asp25918Tyr
ENST00000359218.10:c.77551G>T (TTN)	ENSP00000352154.5:p.Asp25851Tyr
ENST00000342175.10:c.77752G>T (TTN)	ENSP00000340554.6:p.Asp25918Tyr
ENST00000342992.10:c.96667G>T (TTN)	ENSP00000343764.6:p.Asp32223Tyr
ENST00000359218.9:c.77551G>T (TTN)	ENSP00000352154.5:p.Asp25851Tyr
ENST00000460472.6:c.77176G>T (TTN)	ENSP00000434586.1:p.Asp25726Tyr
ENST00000589042.5:c.104371G>T (TTN) MANE Select	ENSP00000467141.1:p.Asp34791Tyr
ENST00000591111.5:c.99448G>T (TTN)	ENSP00000465570.1:p.Asp33150Tyr
ENST00000615779.4:c.99448G>T (TTN)	ENSP00000483597.1:p.Asp33150Tyr
NM_001256850.1:c.99448G>T (TTN)	NP_001243779.1:p.Asp33150Tyr
NM_001267550.2:c.104371G>T (TTN) MANE Select	NP_001254479.2:p.Asp34791Tyr
NM_003319.4:c.77176G>T (TTN)	NP_003310.4:p.Asp25726Tyr
NM_133378.4:c.96667G>T (TTN)	NP_596869.4:p.Asp32223Tyr
NM_133432.3:c.77551G>T (TTN)	NP_597676.3:p.Asp25851Tyr
NM_133437.4:c.77752G>T (TTN)	NP_597681.4:p.Asp25918Tyr
NR_038271.1:n.446+8608C>A (TTN-AS1)
NR_038272.1:n.220-3488C>A (TTN-AS1)
XM_011511729.1:c.103468G>T (TTN)	XP_011510031.1:p.Asp34490Tyr
XM_011511730.1:c.77362G>T (TTN)	XP_011510032.1:p.Asp25788Tyr
XM_011511731.1:c.77221G>T (TTN)	XP_011510033.1:p.Asp25741Tyr
XM_017004819.1:c.103264G>T (TTN)	XP_016860308.1:p.Asp34422Tyr
XM_017004820.1:c.98662G>T (TTN)	XP_016860309.1:p.Asp32888Tyr
XM_017004821.1:c.98659G>T (TTN)	XP_016860310.1:p.Asp32887Tyr
XM_017004822.1:c.95701G>T (TTN)	XP_016860311.1:p.Asp31901Tyr
XM_017004823.1:c.77317G>T (TTN)	XP_016860312.1:p.Asp25773Tyr
XM_024453094.1:c.98812G>T (TTN)	XP_024308862.1:p.Asp32938Tyr
XM_024453095.1:c.98809G>T (TTN)	XP_024308863.1:p.Asp32937Tyr
XM_024453096.1:c.98242G>T (TTN)	XP_024308864.1:p.Asp32748Tyr
XM_024453097.1:c.95584G>T (TTN)	XP_024308865.1:p.Asp31862Tyr
XM_024453098.1:c.95503G>T (TTN)	XP_024308866.1:p.Asp31835Tyr
XM_024453099.1:c.77266G>T (TTN)	XP_024308867.1:p.Asp25756Tyr
XM_024453100.1:c.67120G>T (TTN)	XP_024308868.1:p.Asp22374Tyr