Canonical Allele Identifier: CA349622093

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 446426
• ClinVar RCV Id: RCV000515731 ; RCV000850282 ; RCV002527445
• dbSNP Id: rs1553603152
• MyVariant Identifiers: chr2:g.179435313G>T (hg19) ; chr2:g.178570586G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570586G>T , CM000664.2:g.178570586G>T	GRCh38
NC_000002.11:g.179435313G>T , CM000664.1:g.179435313G>T	GRCh37
NC_000002.10:g.179143559G>T	NCBI36
NG_011618.3:g.265217C>A , LRG_391:g.265217C>A
NG_051363.1:g.52760G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67842C>A (TTN)	ENSP00000343764.6:p.Tyr22614Ter
ENST00000342175.11:c.48927C>A (TTN)	ENSP00000340554.6:p.Tyr16309Ter
ENST00000359218.10:c.48726C>A (TTN)	ENSP00000352154.5:p.Tyr16242Ter
ENST00000342175.10:c.48927C>A (TTN)	ENSP00000340554.6:p.Tyr16309Ter
ENST00000342992.10:c.67842C>A (TTN)	ENSP00000343764.6:p.Tyr22614Ter
ENST00000359218.9:c.48726C>A (TTN)	ENSP00000352154.5:p.Tyr16242Ter
ENST00000460472.6:c.48351C>A (TTN)	ENSP00000434586.1:p.Tyr16117Ter
ENST00000589042.5:c.75546C>A (TTN) MANE Select	ENSP00000467141.1:p.Tyr25182Ter
ENST00000591111.5:c.70623C>A (TTN)	ENSP00000465570.1:p.Tyr23541Ter
ENST00000615779.4:c.70623C>A (TTN)	ENSP00000483597.1:p.Tyr23541Ter
NM_001256850.1:c.70623C>A (TTN)	NP_001243779.1:p.Tyr23541Ter
NM_001267550.2:c.75546C>A (TTN) MANE Select	NP_001254479.2:p.Tyr25182Ter
NM_003319.4:c.48351C>A (TTN)	NP_003310.4:p.Tyr16117Ter
NM_133378.4:c.67842C>A (TTN)	NP_596869.4:p.Tyr22614Ter
NM_133432.3:c.48726C>A (TTN)	NP_597676.3:p.Tyr16242Ter
NM_133437.4:c.48927C>A (TTN)	NP_597681.4:p.Tyr16309Ter
NR_038271.1:n.447-714G>T (TTN-AS1)
NR_038272.1:n.2044-11986G>T (TTN-AS1)
XM_011511729.1:c.74643C>A (TTN)	XP_011510031.1:p.Tyr24881Ter
XM_011511730.1:c.48537C>A (TTN)	XP_011510032.1:p.Tyr16179Ter
XM_011511731.1:c.48396C>A (TTN)	XP_011510033.1:p.Tyr16132Ter
XM_017004819.1:c.74439C>A (TTN)	XP_016860308.1:p.Tyr24813Ter
XM_017004820.1:c.69837C>A (TTN)	XP_016860309.1:p.Tyr23279Ter
XM_017004821.1:c.69834C>A (TTN)	XP_016860310.1:p.Tyr23278Ter
XM_017004822.1:c.66876C>A (TTN)	XP_016860311.1:p.Tyr22292Ter
XM_017004823.1:c.48492C>A (TTN)	XP_016860312.1:p.Tyr16164Ter
XM_024453094.1:c.69987C>A (TTN)	XP_024308862.1:p.Tyr23329Ter
XM_024453095.1:c.69984C>A (TTN)	XP_024308863.1:p.Tyr23328Ter
XM_024453096.1:c.69417C>A (TTN)	XP_024308864.1:p.Tyr23139Ter
XM_024453097.1:c.66759C>A (TTN)	XP_024308865.1:p.Tyr22253Ter
XM_024453098.1:c.66678C>A (TTN)	XP_024308866.1:p.Tyr22226Ter
XM_024453099.1:c.48441C>A (TTN)	XP_024308867.1:p.Tyr16147Ter
XM_024453100.1:c.38295C>A (TTN)	XP_024308868.1:p.Tyr12765Ter