Canonical Allele Identifier: CA1989807

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs369532567
• ExAC: 2:179433656 C / T
• gnomAD v2: 2-179433656-C-T
• gnomAD v3: 2-178568929-C-T
• gnomAD v4: 2-178568929-C-T
• MyVariant Identifiers: chr2:g.179433656C>T (hg19) ; chr2:g.178568929C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568929C>T , CM000664.2:g.178568929C>T	GRCh38
NC_000002.11:g.179433656C>T , CM000664.1:g.179433656C>T	GRCh37
NC_000002.10:g.179141902C>T	NCBI36
NG_011618.3:g.266874G>A , LRG_391:g.266874G>A
NG_051363.1:g.51103C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69499G>A (TTN)	ENSP00000343764.6:p.Val23167Met
ENST00000342175.11:c.50584G>A (TTN)	ENSP00000340554.6:p.Val16862Met
ENST00000359218.10:c.50383G>A (TTN)	ENSP00000352154.5:p.Val16795Met
ENST00000342175.10:c.50584G>A (TTN)	ENSP00000340554.6:p.Val16862Met
ENST00000342992.10:c.69499G>A (TTN)	ENSP00000343764.6:p.Val23167Met
ENST00000359218.9:c.50383G>A (TTN)	ENSP00000352154.5:p.Val16795Met
ENST00000460472.6:c.50008G>A (TTN)	ENSP00000434586.1:p.Val16670Met
ENST00000589042.5:c.77203G>A (TTN) MANE Select	ENSP00000467141.1:p.Val25735Met
ENST00000591111.5:c.72280G>A (TTN)	ENSP00000465570.1:p.Val24094Met
ENST00000615779.4:c.72280G>A (TTN)	ENSP00000483597.1:p.Val24094Met
NM_001256850.1:c.72280G>A (TTN)	NP_001243779.1:p.Val24094Met
NM_001267550.2:c.77203G>A (TTN) MANE Select	NP_001254479.2:p.Val25735Met
NM_003319.4:c.50008G>A (TTN)	NP_003310.4:p.Val16670Met
NM_133378.4:c.69499G>A (TTN)	NP_596869.4:p.Val23167Met
NM_133432.3:c.50383G>A (TTN)	NP_597676.3:p.Val16795Met
NM_133437.4:c.50584G>A (TTN)	NP_597681.4:p.Val16862Met
NR_038271.1:n.447-2371C>T (TTN-AS1)
NR_038272.1:n.2044-13643C>T (TTN-AS1)
XM_011511729.1:c.76300G>A (TTN)	XP_011510031.1:p.Val25434Met
XM_011511730.1:c.50194G>A (TTN)	XP_011510032.1:p.Val16732Met
XM_011511731.1:c.50053G>A (TTN)	XP_011510033.1:p.Val16685Met
XM_017004819.1:c.76096G>A (TTN)	XP_016860308.1:p.Val25366Met
XM_017004820.1:c.71494G>A (TTN)	XP_016860309.1:p.Val23832Met
XM_017004821.1:c.71491G>A (TTN)	XP_016860310.1:p.Val23831Met
XM_017004822.1:c.68533G>A (TTN)	XP_016860311.1:p.Val22845Met
XM_017004823.1:c.50149G>A (TTN)	XP_016860312.1:p.Val16717Met
XM_024453094.1:c.71644G>A (TTN)	XP_024308862.1:p.Val23882Met
XM_024453095.1:c.71641G>A (TTN)	XP_024308863.1:p.Val23881Met
XM_024453096.1:c.71074G>A (TTN)	XP_024308864.1:p.Val23692Met
XM_024453097.1:c.68416G>A (TTN)	XP_024308865.1:p.Val22806Met
XM_024453098.1:c.68335G>A (TTN)	XP_024308866.1:p.Val22779Met
XM_024453099.1:c.50098G>A (TTN)	XP_024308867.1:p.Val16700Met
XM_024453100.1:c.39952G>A (TTN)	XP_024308868.1:p.Val13318Met