Canonical Allele Identifier: CA1987374

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs747622770
• ExAC: 2:179413385 C / T
• gnomAD v2: 2-179413385-C-T
• gnomAD v4: 2-178548658-C-T
• MyVariant Identifiers: chr2:g.179413385C>T (hg19) ; chr2:g.178548658C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178548658C>T , CM000664.2:g.178548658C>T	GRCh38
NC_000002.11:g.179413385C>T , CM000664.1:g.179413385C>T	GRCh37
NC_000002.10:g.179121631C>T	NCBI36
NG_011618.3:g.287145G>A , LRG_391:g.287145G>A
NG_051363.1:g.30832C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.85264G>A (TTN)	ENSP00000343764.6:p.Asp28422Asn
ENST00000342175.11:c.66349G>A (TTN)	ENSP00000340554.6:p.Asp22117Asn
ENST00000359218.10:c.66148G>A (TTN)	ENSP00000352154.5:p.Asp22050Asn
ENST00000342175.10:c.66349G>A (TTN)	ENSP00000340554.6:p.Asp22117Asn
ENST00000342992.10:c.85264G>A (TTN)	ENSP00000343764.6:p.Asp28422Asn
ENST00000359218.9:c.66148G>A (TTN)	ENSP00000352154.5:p.Asp22050Asn
ENST00000460472.6:c.65773G>A (TTN)	ENSP00000434586.1:p.Asp21925Asn
ENST00000589042.5:c.92968G>A (TTN) MANE Select	ENSP00000467141.1:p.Asp30990Asn
ENST00000591111.5:c.88045G>A (TTN)	ENSP00000465570.1:p.Asp29349Asn
ENST00000615779.4:c.88045G>A (TTN)	ENSP00000483597.1:p.Asp29349Asn
NM_001256850.1:c.88045G>A (TTN)	NP_001243779.1:p.Asp29349Asn
NM_001267550.2:c.92968G>A (TTN) MANE Select	NP_001254479.2:p.Asp30990Asn
NM_003319.4:c.65773G>A (TTN)	NP_003310.4:p.Asp21925Asn
NM_133378.4:c.85264G>A (TTN)	NP_596869.4:p.Asp28422Asn
NM_133432.3:c.66148G>A (TTN)	NP_597676.3:p.Asp22050Asn
NM_133437.4:c.66349G>A (TTN)	NP_597681.4:p.Asp22117Asn
NR_038271.1:n.447-22642C>T (TTN-AS1)
NR_038272.1:n.2043+6297C>T (TTN-AS1)
XM_011511729.1:c.92065G>A (TTN)	XP_011510031.1:p.Asp30689Asn
XM_011511730.1:c.65959G>A (TTN)	XP_011510032.1:p.Asp21987Asn
XM_011511731.1:c.65818G>A (TTN)	XP_011510033.1:p.Asp21940Asn
XM_017004819.1:c.91861G>A (TTN)	XP_016860308.1:p.Asp30621Asn
XM_017004820.1:c.87259G>A (TTN)	XP_016860309.1:p.Asp29087Asn
XM_017004821.1:c.87256G>A (TTN)	XP_016860310.1:p.Asp29086Asn
XM_017004822.1:c.84298G>A (TTN)	XP_016860311.1:p.Asp28100Asn
XM_017004823.1:c.65914G>A (TTN)	XP_016860312.1:p.Asp21972Asn
XM_024453094.1:c.87409G>A (TTN)	XP_024308862.1:p.Asp29137Asn
XM_024453095.1:c.87406G>A (TTN)	XP_024308863.1:p.Asp29136Asn
XM_024453096.1:c.86839G>A (TTN)	XP_024308864.1:p.Asp28947Asn
XM_024453097.1:c.84181G>A (TTN)	XP_024308865.1:p.Asp28061Asn
XM_024453098.1:c.84100G>A (TTN)	XP_024308866.1:p.Asp28034Asn
XM_024453099.1:c.65863G>A (TTN)	XP_024308867.1:p.Asp21955Asn
XM_024453100.1:c.55717G>A (TTN)	XP_024308868.1:p.Asp18573Asn