Canonical Allele Identifier: CA60953065

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 265825
• ClinVar RCV Id: RCV000490941 ; RCV001859493 ; RCV002479992
• dbSNP Id: rs952475900
• gnomAD v2: 2-179394815-A-T
• gnomAD v4: 2-178530088-A-T
• MyVariant Identifiers: chr2:g.179394815A>T (hg19) ; chr2:g.178530088A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530088A>T , CM000664.2:g.178530088A>T	GRCh38
NC_000002.11:g.179394815A>T , CM000664.1:g.179394815A>T	GRCh37
NC_000002.10:g.179103061A>T	NCBI36
NG_011618.3:g.305715T>A , LRG_391:g.305715T>A
NG_051363.1:g.12262A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98699T>A (TTN)	ENSP00000343764.6:p.Leu32900His
ENST00000342175.11:c.79784T>A (TTN)	ENSP00000340554.6:p.Leu26595His
ENST00000359218.10:c.79583T>A (TTN)	ENSP00000352154.5:p.Leu26528His
ENST00000342175.10:c.79784T>A (TTN)	ENSP00000340554.6:p.Leu26595His
ENST00000342992.10:c.98699T>A (TTN)	ENSP00000343764.6:p.Leu32900His
ENST00000359218.9:c.79583T>A (TTN)	ENSP00000352154.5:p.Leu26528His
ENST00000460472.6:c.79208T>A (TTN)	ENSP00000434586.1:p.Leu26403His
ENST00000589042.5:c.106403T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu35468His
ENST00000591111.5:c.101480T>A (TTN)	ENSP00000465570.1:p.Leu33827His
ENST00000615779.4:c.101480T>A (TTN)	ENSP00000483597.1:p.Leu33827His
NM_001256850.1:c.101480T>A (TTN)	NP_001243779.1:p.Leu33827His
NM_001267550.2:c.106403T>A (TTN) MANE Select	NP_001254479.2:p.Leu35468His
NM_003319.4:c.79208T>A (TTN)	NP_003310.4:p.Leu26403His
NM_133378.4:c.98699T>A (TTN)	NP_596869.4:p.Leu32900His
NM_133432.3:c.79583T>A (TTN)	NP_597676.3:p.Leu26528His
NM_133437.4:c.79784T>A (TTN)	NP_597681.4:p.Leu26595His
NR_038271.1:n.446+6452A>T (TTN-AS1)
NR_038272.1:n.220-5644A>T (TTN-AS1)
XM_011511729.1:c.105500T>A (TTN)	XP_011510031.1:p.Leu35167His
XM_011511730.1:c.79394T>A (TTN)	XP_011510032.1:p.Leu26465His
XM_011511731.1:c.79253T>A (TTN)	XP_011510033.1:p.Leu26418His
XM_017004819.1:c.105296T>A (TTN)	XP_016860308.1:p.Leu35099His
XM_017004820.1:c.100694T>A (TTN)	XP_016860309.1:p.Leu33565His
XM_017004821.1:c.100691T>A (TTN)	XP_016860310.1:p.Leu33564His
XM_017004822.1:c.97733T>A (TTN)	XP_016860311.1:p.Leu32578His
XM_017004823.1:c.79349T>A (TTN)	XP_016860312.1:p.Leu26450His
XM_024453094.1:c.100844T>A (TTN)	XP_024308862.1:p.Leu33615His
XM_024453095.1:c.100841T>A (TTN)	XP_024308863.1:p.Leu33614His
XM_024453096.1:c.100274T>A (TTN)	XP_024308864.1:p.Leu33425His
XM_024453097.1:c.97616T>A (TTN)	XP_024308865.1:p.Leu32539His
XM_024453098.1:c.97535T>A (TTN)	XP_024308866.1:p.Leu32512His
XM_024453099.1:c.79298T>A (TTN)	XP_024308867.1:p.Leu26433His
XM_024453100.1:c.69152T>A (TTN)	XP_024308868.1:p.Leu23051His