Canonical Allele Identifier: CA16610217

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 405070
• ClinVar RCV Id: RCV001377407
• dbSNP Id: rs375076970
• MyVariant Identifiers: chr2:g.179409151G>T (hg19) ; chr2:g.178544424G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544424G>T , CM000664.2:g.178544424G>T	GRCh38
NC_000002.11:g.179409151G>T , CM000664.1:g.179409151G>T	GRCh37
NC_000002.10:g.179117397G>T	NCBI36
NG_011618.3:g.291379C>A , LRG_391:g.291379C>A
NG_051363.1:g.26598G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88101C>A (TTN)	ENSP00000343764.6:p.Tyr29367Ter
ENST00000342175.11:c.69186C>A (TTN)	ENSP00000340554.6:p.Tyr23062Ter
ENST00000359218.10:c.68985C>A (TTN)	ENSP00000352154.5:p.Tyr22995Ter
ENST00000342175.10:c.69186C>A (TTN)	ENSP00000340554.6:p.Tyr23062Ter
ENST00000342992.10:c.88101C>A (TTN)	ENSP00000343764.6:p.Tyr29367Ter
ENST00000359218.9:c.68985C>A (TTN)	ENSP00000352154.5:p.Tyr22995Ter
ENST00000460472.6:c.68610C>A (TTN)	ENSP00000434586.1:p.Tyr22870Ter
ENST00000589042.5:c.95805C>A (TTN) MANE Select	ENSP00000467141.1:p.Tyr31935Ter
ENST00000591111.5:c.90882C>A (TTN)	ENSP00000465570.1:p.Tyr30294Ter
ENST00000615779.4:c.90882C>A (TTN)	ENSP00000483597.1:p.Tyr30294Ter
NM_001256850.1:c.90882C>A (TTN)	NP_001243779.1:p.Tyr30294Ter
NM_001267550.2:c.95805C>A (TTN) MANE Select	NP_001254479.2:p.Tyr31935Ter
NM_003319.4:c.68610C>A (TTN)	NP_003310.4:p.Tyr22870Ter
NM_133378.4:c.88101C>A (TTN)	NP_596869.4:p.Tyr29367Ter
NM_133432.3:c.68985C>A (TTN)	NP_597676.3:p.Tyr22995Ter
NM_133437.4:c.69186C>A (TTN)	NP_597681.4:p.Tyr23062Ter
NR_038271.1:n.446+20788G>T (TTN-AS1)
NR_038272.1:n.2043+2063G>T (TTN-AS1)
XM_011511729.1:c.94902C>A (TTN)	XP_011510031.1:p.Tyr31634Ter
XM_011511730.1:c.68796C>A (TTN)	XP_011510032.1:p.Tyr22932Ter
XM_011511731.1:c.68655C>A (TTN)	XP_011510033.1:p.Tyr22885Ter
XM_017004819.1:c.94698C>A (TTN)	XP_016860308.1:p.Tyr31566Ter
XM_017004820.1:c.90096C>A (TTN)	XP_016860309.1:p.Tyr30032Ter
XM_017004821.1:c.90093C>A (TTN)	XP_016860310.1:p.Tyr30031Ter
XM_017004822.1:c.87135C>A (TTN)	XP_016860311.1:p.Tyr29045Ter
XM_017004823.1:c.68751C>A (TTN)	XP_016860312.1:p.Tyr22917Ter
XM_024453094.1:c.90246C>A (TTN)	XP_024308862.1:p.Tyr30082Ter
XM_024453095.1:c.90243C>A (TTN)	XP_024308863.1:p.Tyr30081Ter
XM_024453096.1:c.89676C>A (TTN)	XP_024308864.1:p.Tyr29892Ter
XM_024453097.1:c.87018C>A (TTN)	XP_024308865.1:p.Tyr29006Ter
XM_024453098.1:c.86937C>A (TTN)	XP_024308866.1:p.Tyr28979Ter
XM_024453099.1:c.68700C>A (TTN)	XP_024308867.1:p.Tyr22900Ter
XM_024453100.1:c.58554C>A (TTN)	XP_024308868.1:p.Tyr19518Ter