Canonical Allele Identifier: CA1987625

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs765777852
• ExAC: 2:179415786 C / T
• gnomAD v2: 2-179415786-C-T
• gnomAD v3: 2-178551059-C-T
• gnomAD v4: 2-178551059-C-T
• MyVariant Identifiers: chr2:g.179415786C>T (hg19) ; chr2:g.178551059C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551059C>T , CM000664.2:g.178551059C>T	GRCh38
NC_000002.11:g.179415786C>T , CM000664.1:g.179415786C>T	GRCh37
NC_000002.10:g.179124032C>T	NCBI36
NG_011618.3:g.284744G>A , LRG_391:g.284744G>A
NG_051363.1:g.33233C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83768G>A (TTN)	ENSP00000343764.6:p.Arg27923His
ENST00000342175.11:c.64853G>A (TTN)	ENSP00000340554.6:p.Arg21618His
ENST00000359218.10:c.64652G>A (TTN)	ENSP00000352154.5:p.Arg21551His
ENST00000342175.10:c.64853G>A (TTN)	ENSP00000340554.6:p.Arg21618His
ENST00000342992.10:c.83768G>A (TTN)	ENSP00000343764.6:p.Arg27923His
ENST00000359218.9:c.64652G>A (TTN)	ENSP00000352154.5:p.Arg21551His
ENST00000460472.6:c.64277G>A (TTN)	ENSP00000434586.1:p.Arg21426His
ENST00000589042.5:c.91472G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg30491His
ENST00000591111.5:c.86549G>A (TTN)	ENSP00000465570.1:p.Arg28850His
ENST00000615779.4:c.86549G>A (TTN)	ENSP00000483597.1:p.Arg28850His
NM_001256850.1:c.86549G>A (TTN)	NP_001243779.1:p.Arg28850His
NM_001267550.2:c.91472G>A (TTN) MANE Select	NP_001254479.2:p.Arg30491His
NM_003319.4:c.64277G>A (TTN)	NP_003310.4:p.Arg21426His
NM_133378.4:c.83768G>A (TTN)	NP_596869.4:p.Arg27923His
NM_133432.3:c.64652G>A (TTN)	NP_597676.3:p.Arg21551His
NM_133437.4:c.64853G>A (TTN)	NP_597681.4:p.Arg21618His
NR_038271.1:n.447-20241C>T (TTN-AS1)
NR_038272.1:n.2043+8698C>T (TTN-AS1)
XM_011511729.1:c.90569G>A (TTN)	XP_011510031.1:p.Arg30190His
XM_011511730.1:c.64463G>A (TTN)	XP_011510032.1:p.Arg21488His
XM_011511731.1:c.64322G>A (TTN)	XP_011510033.1:p.Arg21441His
XM_017004819.1:c.90365G>A (TTN)	XP_016860308.1:p.Arg30122His
XM_017004820.1:c.85763G>A (TTN)	XP_016860309.1:p.Arg28588His
XM_017004821.1:c.85760G>A (TTN)	XP_016860310.1:p.Arg28587His
XM_017004822.1:c.82802G>A (TTN)	XP_016860311.1:p.Arg27601His
XM_017004823.1:c.64418G>A (TTN)	XP_016860312.1:p.Arg21473His
XM_024453094.1:c.85913G>A (TTN)	XP_024308862.1:p.Arg28638His
XM_024453095.1:c.85910G>A (TTN)	XP_024308863.1:p.Arg28637His
XM_024453096.1:c.85343G>A (TTN)	XP_024308864.1:p.Arg28448His
XM_024453097.1:c.82685G>A (TTN)	XP_024308865.1:p.Arg27562His
XM_024453098.1:c.82604G>A (TTN)	XP_024308866.1:p.Arg27535His
XM_024453099.1:c.64367G>A (TTN)	XP_024308867.1:p.Arg21456His
XM_024453100.1:c.54221G>A (TTN)	XP_024308868.1:p.Arg18074His