Canonical Allele Identifier: CA16617350

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 419135
• ClinVar RCV Id: RCV000484371 ; RCV001037089 ; RCV002350056
• dbSNP Id: rs1064793668
• MyVariant Identifiers: chr2:g.179432455C>T (hg19) ; chr2:g.178567728C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567728C>T , CM000664.2:g.178567728C>T	GRCh38
NC_000002.11:g.179432455C>T , CM000664.1:g.179432455C>T	GRCh37
NC_000002.10:g.179140701C>T	NCBI36
NG_011618.3:g.268075G>A , LRG_391:g.268075G>A
NG_051363.1:g.49902C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.70700G>A (TTN)	ENSP00000343764.6:p.Trp23567Ter
ENST00000342175.11:c.51785G>A (TTN)	ENSP00000340554.6:p.Trp17262Ter
ENST00000359218.10:c.51584G>A (TTN)	ENSP00000352154.5:p.Trp17195Ter
ENST00000342175.10:c.51785G>A (TTN)	ENSP00000340554.6:p.Trp17262Ter
ENST00000342992.10:c.70700G>A (TTN)	ENSP00000343764.6:p.Trp23567Ter
ENST00000359218.9:c.51584G>A (TTN)	ENSP00000352154.5:p.Trp17195Ter
ENST00000460472.6:c.51209G>A (TTN)	ENSP00000434586.1:p.Trp17070Ter
ENST00000589042.5:c.78404G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp26135Ter
ENST00000591111.5:c.73481G>A (TTN)	ENSP00000465570.1:p.Trp24494Ter
ENST00000615779.4:c.73481G>A (TTN)	ENSP00000483597.1:p.Trp24494Ter
NM_001256850.1:c.73481G>A (TTN)	NP_001243779.1:p.Trp24494Ter
NM_001267550.2:c.78404G>A (TTN) MANE Select	NP_001254479.2:p.Trp26135Ter
NM_003319.4:c.51209G>A (TTN)	NP_003310.4:p.Trp17070Ter
NM_133378.4:c.70700G>A (TTN)	NP_596869.4:p.Trp23567Ter
NM_133432.3:c.51584G>A (TTN)	NP_597676.3:p.Trp17195Ter
NM_133437.4:c.51785G>A (TTN)	NP_597681.4:p.Trp17262Ter
NR_038271.1:n.447-3572C>T (TTN-AS1)
NR_038272.1:n.2044-14844C>T (TTN-AS1)
XM_011511729.1:c.77501G>A (TTN)	XP_011510031.1:p.Trp25834Ter
XM_011511730.1:c.51395G>A (TTN)	XP_011510032.1:p.Trp17132Ter
XM_011511731.1:c.51254G>A (TTN)	XP_011510033.1:p.Trp17085Ter
XM_017004819.1:c.77297G>A (TTN)	XP_016860308.1:p.Trp25766Ter
XM_017004820.1:c.72695G>A (TTN)	XP_016860309.1:p.Trp24232Ter
XM_017004821.1:c.72692G>A (TTN)	XP_016860310.1:p.Trp24231Ter
XM_017004822.1:c.69734G>A (TTN)	XP_016860311.1:p.Trp23245Ter
XM_017004823.1:c.51350G>A (TTN)	XP_016860312.1:p.Trp17117Ter
XM_024453094.1:c.72845G>A (TTN)	XP_024308862.1:p.Trp24282Ter
XM_024453095.1:c.72842G>A (TTN)	XP_024308863.1:p.Trp24281Ter
XM_024453096.1:c.72275G>A (TTN)	XP_024308864.1:p.Trp24092Ter
XM_024453097.1:c.69617G>A (TTN)	XP_024308865.1:p.Trp23206Ter
XM_024453098.1:c.69536G>A (TTN)	XP_024308866.1:p.Trp23179Ter
XM_024453099.1:c.51299G>A (TTN)	XP_024308867.1:p.Trp17100Ter
XM_024453100.1:c.41153G>A (TTN)	XP_024308868.1:p.Trp13718Ter