Canonical Allele Identifier: CA349427715

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178537534-C-T
• MyVariant Identifiers: chr2:g.179402261C>T (hg19) ; chr2:g.178537534C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537534C>T , CM000664.2:g.178537534C>T	GRCh38
NC_000002.11:g.179402261C>T , CM000664.1:g.179402261C>T	GRCh37
NC_000002.10:g.179110507C>T	NCBI36
NG_011618.3:g.298269G>A , LRG_391:g.298269G>A
NG_051363.1:g.19708C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.91969G>A (TTN)	ENSP00000343764.6:p.Val30657Ile
ENST00000342175.11:c.73054G>A (TTN)	ENSP00000340554.6:p.Val24352Ile
ENST00000359218.10:c.72853G>A (TTN)	ENSP00000352154.5:p.Val24285Ile
ENST00000342175.10:c.73054G>A (TTN)	ENSP00000340554.6:p.Val24352Ile
ENST00000342992.10:c.91969G>A (TTN)	ENSP00000343764.6:p.Val30657Ile
ENST00000359218.9:c.72853G>A (TTN)	ENSP00000352154.5:p.Val24285Ile
ENST00000460472.6:c.72478G>A (TTN)	ENSP00000434586.1:p.Val24160Ile
ENST00000589042.5:c.99673G>A (TTN) MANE Select	ENSP00000467141.1:p.Val33225Ile
ENST00000591111.5:c.94750G>A (TTN)	ENSP00000465570.1:p.Val31584Ile
ENST00000615779.4:c.94750G>A (TTN)	ENSP00000483597.1:p.Val31584Ile
NM_001256850.1:c.94750G>A (TTN)	NP_001243779.1:p.Val31584Ile
NM_001267550.2:c.99673G>A (TTN) MANE Select	NP_001254479.2:p.Val33225Ile
NM_003319.4:c.72478G>A (TTN)	NP_003310.4:p.Val24160Ile
NM_133378.4:c.91969G>A (TTN)	NP_596869.4:p.Val30657Ile
NM_133432.3:c.72853G>A (TTN)	NP_597676.3:p.Val24285Ile
NM_133437.4:c.73054G>A (TTN)	NP_597681.4:p.Val24352Ile
NR_038271.1:n.446+13898C>T (TTN-AS1)
NR_038272.1:n.490C>T (TTN-AS1)
XM_011511729.1:c.98770G>A (TTN)	XP_011510031.1:p.Val32924Ile
XM_011511730.1:c.72664G>A (TTN)	XP_011510032.1:p.Val24222Ile
XM_011511731.1:c.72523G>A (TTN)	XP_011510033.1:p.Val24175Ile
XM_017004819.1:c.98566G>A (TTN)	XP_016860308.1:p.Val32856Ile
XM_017004820.1:c.93964G>A (TTN)	XP_016860309.1:p.Val31322Ile
XM_017004821.1:c.93961G>A (TTN)	XP_016860310.1:p.Val31321Ile
XM_017004822.1:c.91003G>A (TTN)	XP_016860311.1:p.Val30335Ile
XM_017004823.1:c.72619G>A (TTN)	XP_016860312.1:p.Val24207Ile
XM_024453094.1:c.94114G>A (TTN)	XP_024308862.1:p.Val31372Ile
XM_024453095.1:c.94111G>A (TTN)	XP_024308863.1:p.Val31371Ile
XM_024453096.1:c.93544G>A (TTN)	XP_024308864.1:p.Val31182Ile
XM_024453097.1:c.90886G>A (TTN)	XP_024308865.1:p.Val30296Ile
XM_024453098.1:c.90805G>A (TTN)	XP_024308866.1:p.Val30269Ile
XM_024453099.1:c.72568G>A (TTN)	XP_024308867.1:p.Val24190Ile
XM_024453100.1:c.62422G>A (TTN)	XP_024308868.1:p.Val20808Ile