Canonical Allele Identifier: CA349426176

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 520477
• ClinVar RCV Id: RCV000622418 ; RCV001067918
• dbSNP Id: rs1553624468
• MyVariant Identifiers: chr2:g.179445338T>G (hg19) ; chr2:g.178580611T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178580611T>G , CM000664.2:g.178580611T>G	GRCh38
NC_000002.11:g.179445338T>G , CM000664.1:g.179445338T>G	GRCh37
NC_000002.10:g.179153584T>G	NCBI36
NG_011618.3:g.255192A>C , LRG_391:g.255192A>C
NG_051363.1:g.62785T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.59066-2A>C (TTN)	ENSP00000343764.6:n.59066-2A>C
ENST00000342175.11:c.40151-2A>C (TTN)	ENSP00000340554.6:n.40151-2A>C
ENST00000359218.10:c.39950-2A>C (TTN)	ENSP00000352154.5:n.39950-2A>C
ENST00000342175.10:c.40151-2A>C (TTN)	ENSP00000340554.6:n.40151-2A>C
ENST00000342992.10:c.59066-2A>C (TTN)	ENSP00000343764.6:n.59066-2A>C
ENST00000359218.9:c.39950-2A>C (TTN)	ENSP00000352154.5:n.39950-2A>C
ENST00000460472.6:c.39575-2A>C (TTN)	ENSP00000434586.1:n.39575-2A>C
ENST00000589042.5:c.66770-2A>C (TTN) MANE Select	ENSP00000467141.1:n.66770-2A>C
ENST00000591111.5:c.61847-2A>C (TTN)	ENSP00000465570.1:n.61847-2A>C
ENST00000615779.4:c.61847-2A>C (TTN)	ENSP00000483597.1:n.61847-2A>C
NM_001256850.1:c.61847-2A>C (TTN)	NP_001243779.1:n.61847-2A>C
NM_001267550.2:c.66770-2A>C (TTN) MANE Select	NP_001254479.2:n.66770-2A>C
NM_003319.4:c.39575-2A>C (TTN)	NP_003310.4:n.39575-2A>C
NM_133378.4:c.59066-2A>C (TTN)	NP_596869.4:n.59066-2A>C
NM_133432.3:c.39950-2A>C (TTN)	NP_597676.3:n.39950-2A>C
NM_133437.4:c.40151-2A>C (TTN)	NP_597681.4:n.40151-2A>C
NR_038271.1:n.596+9162T>G (TTN-AS1)
NR_038272.1:n.2044-1961T>G (TTN-AS1)
XM_011511729.1:c.65867-2A>C (TTN)	XP_011510031.1:n.65867-2A>C
XM_011511730.1:c.39761-2A>C (TTN)	XP_011510032.1:n.39761-2A>C
XM_011511731.1:c.39620-2A>C (TTN)	XP_011510033.1:n.39620-2A>C
XM_017004819.1:c.65663-2A>C (TTN)	XP_016860308.1:n.65663-2A>C
XM_017004820.1:c.61061-2A>C (TTN)	XP_016860309.1:n.61061-2A>C
XM_017004821.1:c.61058-2A>C (TTN)	XP_016860310.1:n.61058-2A>C
XM_017004822.1:c.58100-2A>C (TTN)	XP_016860311.1:n.58100-2A>C
XM_017004823.1:c.39716-2A>C (TTN)	XP_016860312.1:n.39716-2A>C
XM_024453094.1:c.61211-2A>C (TTN)	XP_024308862.1:n.61211-2A>C
XM_024453095.1:c.61208-2A>C (TTN)	XP_024308863.1:n.61208-2A>C
XM_024453096.1:c.60641-2A>C (TTN)	XP_024308864.1:n.60641-2A>C
XM_024453097.1:c.57983-2A>C (TTN)	XP_024308865.1:n.57983-2A>C
XM_024453098.1:c.57902-2A>C (TTN)	XP_024308866.1:n.57902-2A>C
XM_024453099.1:c.39665-2A>C (TTN)	XP_024308867.1:n.39665-2A>C
XM_024453100.1:c.29519-2A>C (TTN)	XP_024308868.1:n.29519-2A>C