Canonical Allele Identifier: CA309511

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202526
• ClinVar RCV Id: RCV000184395 ; RCV001852397
• dbSNP Id: rs794729385
• gnomAD v4: 2-178553725-A-T
• MyVariant Identifiers: chr2:g.179418452A>T (hg19) ; chr2:g.178553725A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178553725A>T , CM000664.2:g.178553725A>T	GRCh38
NC_000002.11:g.179418452A>T , CM000664.1:g.179418452A>T	GRCh37
NC_000002.10:g.179126698A>T	NCBI36
NG_011618.3:g.282078T>A , LRG_391:g.282078T>A
NG_051363.1:g.35899A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.81576T>A (TTN)	ENSP00000343764.6:p.Tyr27192Ter
ENST00000342175.11:c.62661T>A (TTN)	ENSP00000340554.6:p.Tyr20887Ter
ENST00000359218.10:c.62460T>A (TTN)	ENSP00000352154.5:p.Tyr20820Ter
ENST00000342175.10:c.62661T>A (TTN)	ENSP00000340554.6:p.Tyr20887Ter
ENST00000342992.10:c.81576T>A (TTN)	ENSP00000343764.6:p.Tyr27192Ter
ENST00000359218.9:c.62460T>A (TTN)	ENSP00000352154.5:p.Tyr20820Ter
ENST00000460472.6:c.62085T>A (TTN)	ENSP00000434586.1:p.Tyr20695Ter
ENST00000589042.5:c.89280T>A (TTN) MANE Select	ENSP00000467141.1:p.Tyr29760Ter
ENST00000591111.5:c.84357T>A (TTN)	ENSP00000465570.1:p.Tyr28119Ter
ENST00000615779.4:c.84357T>A (TTN)	ENSP00000483597.1:p.Tyr28119Ter
NM_001256850.1:c.84357T>A (TTN)	NP_001243779.1:p.Tyr28119Ter
NM_001267550.2:c.89280T>A (TTN) MANE Select	NP_001254479.2:p.Tyr29760Ter
NM_003319.4:c.62085T>A (TTN)	NP_003310.4:p.Tyr20695Ter
NM_133378.4:c.81576T>A (TTN)	NP_596869.4:p.Tyr27192Ter
NM_133432.3:c.62460T>A (TTN)	NP_597676.3:p.Tyr20820Ter
NM_133437.4:c.62661T>A (TTN)	NP_597681.4:p.Tyr20887Ter
NR_038271.1:n.447-17575A>T (TTN-AS1)
NR_038272.1:n.2043+11364A>T (TTN-AS1)
XM_011511729.1:c.88377T>A (TTN)	XP_011510031.1:p.Tyr29459Ter
XM_011511730.1:c.62271T>A (TTN)	XP_011510032.1:p.Tyr20757Ter
XM_011511731.1:c.62130T>A (TTN)	XP_011510033.1:p.Tyr20710Ter
XM_017004819.1:c.88173T>A (TTN)	XP_016860308.1:p.Tyr29391Ter
XM_017004820.1:c.83571T>A (TTN)	XP_016860309.1:p.Tyr27857Ter
XM_017004821.1:c.83568T>A (TTN)	XP_016860310.1:p.Tyr27856Ter
XM_017004822.1:c.80610T>A (TTN)	XP_016860311.1:p.Tyr26870Ter
XM_017004823.1:c.62226T>A (TTN)	XP_016860312.1:p.Tyr20742Ter
XM_024453094.1:c.83721T>A (TTN)	XP_024308862.1:p.Tyr27907Ter
XM_024453095.1:c.83718T>A (TTN)	XP_024308863.1:p.Tyr27906Ter
XM_024453096.1:c.83151T>A (TTN)	XP_024308864.1:p.Tyr27717Ter
XM_024453097.1:c.80493T>A (TTN)	XP_024308865.1:p.Tyr26831Ter
XM_024453098.1:c.80412T>A (TTN)	XP_024308866.1:p.Tyr26804Ter
XM_024453099.1:c.62175T>A (TTN)	XP_024308867.1:p.Tyr20725Ter
XM_024453100.1:c.52029T>A (TTN)	XP_024308868.1:p.Tyr17343Ter