Canonical Allele Identifier: CA349653714

Gene: TTN

Linked Data

• dbSNP Id: rs760643071
• gnomAD v2: 2-179498246-A-T
• gnomAD v4: 2-178633519-A-T
• MyVariant Identifiers: chr2:g.179498246A>T (hg19) ; chr2:g.178633519A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178633519A>T , CM000664.2:g.178633519A>T	GRCh38
NC_000002.11:g.179498246A>T , CM000664.1:g.179498246A>T	GRCh37
NC_000002.10:g.179206491A>T	NCBI36
NG_011618.3:g.202284T>A , LRG_391:g.202284T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.35136T>A	ENSP00000343764.6:p.Asp11712Glu
ENST00000342175.11:c.16221T>A	ENSP00000340554.6:p.Asp5407Glu
ENST00000359218.10:c.16020T>A	ENSP00000352154.5:p.Asp5340Glu
ENST00000342175.10:c.16221T>A	ENSP00000340554.6:p.Asp5407Glu
ENST00000342992.10:c.35136T>A	ENSP00000343764.6:p.Asp11712Glu
ENST00000359218.9:c.16020T>A	ENSP00000352154.5:p.Asp5340Glu
ENST00000460472.6:c.15645T>A	ENSP00000434586.1:p.Asp5215Glu
ENST00000589042.5:c.42840T>A MANE Select	ENSP00000467141.1:p.Asp14280Glu
ENST00000591111.5:c.37917T>A	ENSP00000465570.1:p.Asp12639Glu
ENST00000615779.4:c.37917T>A	ENSP00000483597.1:p.Asp12639Glu
NM_001256850.1:c.37917T>A	NP_001243779.1:p.Asp12639Glu
NM_001267550.2:c.42840T>A MANE Select	NP_001254479.2:p.Asp14280Glu
NM_003319.4:c.15645T>A	NP_003310.4:p.Asp5215Glu
NM_133378.4:c.35136T>A	NP_596869.4:p.Asp11712Glu
NM_133432.3:c.16020T>A	NP_597676.3:p.Asp5340Glu
NM_133437.4:c.16221T>A	NP_597681.4:p.Asp5407Glu
XM_011511729.1:c.41937T>A	XP_011510031.1:p.Asp13979Glu
XM_011511730.1:c.15831T>A	XP_011510032.1:p.Asp5277Glu
XM_011511731.1:c.15690T>A	XP_011510033.1:p.Asp5230Glu
XM_017004819.1:c.41733T>A	XP_016860308.1:p.Asp13911Glu
XM_017004820.1:c.37131T>A	XP_016860309.1:p.Asp12377Glu
XM_017004821.1:c.37128T>A	XP_016860310.1:p.Asp12376Glu
XM_017004822.1:c.34170T>A	XP_016860311.1:p.Asp11390Glu
XM_017004823.1:c.15786T>A	XP_016860312.1:p.Asp5262Glu
XM_024453094.1:c.37281T>A	XP_024308862.1:p.Asp12427Glu
XM_024453095.1:c.37278T>A	XP_024308863.1:p.Asp12426Glu
XM_024453096.1:c.36711T>A	XP_024308864.1:p.Asp12237Glu
XM_024453097.1:c.34053T>A	XP_024308865.1:p.Asp11351Glu
XM_024453098.1:c.33972T>A	XP_024308866.1:p.Asp11324Glu
XM_024453099.1:c.15735T>A	XP_024308867.1:p.Asp5245Glu
XM_024453100.1:c.5589T>A	XP_024308868.1:p.Asp1863Glu