Canonical Allele Identifier: CA349444554

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 466674
• ClinVar RCV Id: RCV001377466 ; RCV002367860 ; RCV003994008
• dbSNP Id: rs1553517092
• MyVariant Identifiers: chr2:g.179407795C>T (hg19) ; chr2:g.178543068C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543068C>T , CM000664.2:g.178543068C>T	GRCh38
NC_000002.11:g.179407795C>T , CM000664.1:g.179407795C>T	GRCh37
NC_000002.10:g.179116041C>T	NCBI36
NG_011618.3:g.292735G>A , LRG_391:g.292735G>A
NG_051363.1:g.25242C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.89200+1G>A (TTN)	ENSP00000343764.6:n.89200+1G>A
ENST00000342175.11:c.70285+1G>A (TTN)	ENSP00000340554.6:n.70285+1G>A
ENST00000359218.10:c.70084+1G>A (TTN)	ENSP00000352154.5:n.70084+1G>A
ENST00000342175.10:c.70285+1G>A (TTN)	ENSP00000340554.6:n.70285+1G>A
ENST00000342992.10:c.89200+1G>A (TTN)	ENSP00000343764.6:n.89200+1G>A
ENST00000359218.9:c.70084+1G>A (TTN)	ENSP00000352154.5:n.70084+1G>A
ENST00000460472.6:c.69709+1G>A (TTN)	ENSP00000434586.1:n.69709+1G>A
ENST00000589042.5:c.96904+1G>A (TTN) MANE Select	ENSP00000467141.1:n.96904+1G>A
ENST00000591111.5:c.91981+1G>A (TTN)	ENSP00000465570.1:n.91981+1G>A
ENST00000615779.4:c.91981+1G>A (TTN)	ENSP00000483597.1:n.91981+1G>A
NM_001256850.1:c.91981+1G>A (TTN)	NP_001243779.1:n.91981+1G>A
NM_001267550.2:c.96904+1G>A (TTN) MANE Select	NP_001254479.2:n.96904+1G>A
NM_003319.4:c.69709+1G>A (TTN)	NP_003310.4:n.69709+1G>A
NM_133378.4:c.89200+1G>A (TTN)	NP_596869.4:n.89200+1G>A
NM_133432.3:c.70084+1G>A (TTN)	NP_597676.3:n.70084+1G>A
NM_133437.4:c.70285+1G>A (TTN)	NP_597681.4:n.70285+1G>A
NR_038271.1:n.446+19432C>T (TTN-AS1)
NR_038272.1:n.2043+707C>T (TTN-AS1)
XM_011511729.1:c.96001+1G>A (TTN)	XP_011510031.1:n.96001+1G>A
XM_011511730.1:c.69895+1G>A (TTN)	XP_011510032.1:n.69895+1G>A
XM_011511731.1:c.69754+1G>A (TTN)	XP_011510033.1:n.69754+1G>A
XM_017004819.1:c.95797+1G>A (TTN)	XP_016860308.1:n.95797+1G>A
XM_017004820.1:c.91195+1G>A (TTN)	XP_016860309.1:n.91195+1G>A
XM_017004821.1:c.91192+1G>A (TTN)	XP_016860310.1:n.91192+1G>A
XM_017004822.1:c.88234+1G>A (TTN)	XP_016860311.1:n.88234+1G>A
XM_017004823.1:c.69850+1G>A (TTN)	XP_016860312.1:n.69850+1G>A
XM_024453094.1:c.91345+1G>A (TTN)	XP_024308862.1:n.91345+1G>A
XM_024453095.1:c.91342+1G>A (TTN)	XP_024308863.1:n.91342+1G>A
XM_024453096.1:c.90775+1G>A (TTN)	XP_024308864.1:n.90775+1G>A
XM_024453097.1:c.88117+1G>A (TTN)	XP_024308865.1:n.88117+1G>A
XM_024453098.1:c.88036+1G>A (TTN)	XP_024308866.1:n.88036+1G>A
XM_024453099.1:c.69799+1G>A (TTN)	XP_024308867.1:n.69799+1G>A
XM_024453100.1:c.59653+1G>A (TTN)	XP_024308868.1:n.59653+1G>A