Canonical Allele Identifier: CA349427723

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2441645
• ClinVar RCV Id: RCV003147872
• dbSNP Id: rs1367376217
• gnomAD v2: 2-179402267-G-A
• gnomAD v3: 2-178537540-G-A
• gnomAD v4: 2-178537540-G-A
• MyVariant Identifiers: chr2:g.179402267G>A (hg19) ; chr2:g.178537540G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537540G>A , CM000664.2:g.178537540G>A	GRCh38
NC_000002.11:g.179402267G>A , CM000664.1:g.179402267G>A	GRCh37
NC_000002.10:g.179110513G>A	NCBI36
NG_011618.3:g.298263C>T , LRG_391:g.298263C>T
NG_051363.1:g.19714G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.91963C>T (TTN)	ENSP00000343764.6:p.Arg30655Cys
ENST00000342175.11:c.73048C>T (TTN)	ENSP00000340554.6:p.Arg24350Cys
ENST00000359218.10:c.72847C>T (TTN)	ENSP00000352154.5:p.Arg24283Cys
ENST00000342175.10:c.73048C>T (TTN)	ENSP00000340554.6:p.Arg24350Cys
ENST00000342992.10:c.91963C>T (TTN)	ENSP00000343764.6:p.Arg30655Cys
ENST00000359218.9:c.72847C>T (TTN)	ENSP00000352154.5:p.Arg24283Cys
ENST00000460472.6:c.72472C>T (TTN)	ENSP00000434586.1:p.Arg24158Cys
ENST00000589042.5:c.99667C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg33223Cys
ENST00000591111.5:c.94744C>T (TTN)	ENSP00000465570.1:p.Arg31582Cys
ENST00000615779.4:c.94744C>T (TTN)	ENSP00000483597.1:p.Arg31582Cys
NM_001256850.1:c.94744C>T (TTN)	NP_001243779.1:p.Arg31582Cys
NM_001267550.2:c.99667C>T (TTN) MANE Select	NP_001254479.2:p.Arg33223Cys
NM_003319.4:c.72472C>T (TTN)	NP_003310.4:p.Arg24158Cys
NM_133378.4:c.91963C>T (TTN)	NP_596869.4:p.Arg30655Cys
NM_133432.3:c.72847C>T (TTN)	NP_597676.3:p.Arg24283Cys
NM_133437.4:c.73048C>T (TTN)	NP_597681.4:p.Arg24350Cys
NR_038271.1:n.446+13904G>A (TTN-AS1)
NR_038272.1:n.496G>A (TTN-AS1)
XM_011511729.1:c.98764C>T (TTN)	XP_011510031.1:p.Arg32922Cys
XM_011511730.1:c.72658C>T (TTN)	XP_011510032.1:p.Arg24220Cys
XM_011511731.1:c.72517C>T (TTN)	XP_011510033.1:p.Arg24173Cys
XM_017004819.1:c.98560C>T (TTN)	XP_016860308.1:p.Arg32854Cys
XM_017004820.1:c.93958C>T (TTN)	XP_016860309.1:p.Arg31320Cys
XM_017004821.1:c.93955C>T (TTN)	XP_016860310.1:p.Arg31319Cys
XM_017004822.1:c.90997C>T (TTN)	XP_016860311.1:p.Arg30333Cys
XM_017004823.1:c.72613C>T (TTN)	XP_016860312.1:p.Arg24205Cys
XM_024453094.1:c.94108C>T (TTN)	XP_024308862.1:p.Arg31370Cys
XM_024453095.1:c.94105C>T (TTN)	XP_024308863.1:p.Arg31369Cys
XM_024453096.1:c.93538C>T (TTN)	XP_024308864.1:p.Arg31180Cys
XM_024453097.1:c.90880C>T (TTN)	XP_024308865.1:p.Arg30294Cys
XM_024453098.1:c.90799C>T (TTN)	XP_024308866.1:p.Arg30267Cys
XM_024453099.1:c.72562C>T (TTN)	XP_024308867.1:p.Arg24188Cys
XM_024453100.1:c.62416C>T (TTN)	XP_024308868.1:p.Arg20806Cys