Canonical Allele Identifier: CA349479423

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179455653G>C (hg19) ; chr2:g.178590926G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178590926G>C , CM000664.2:g.178590926G>C	GRCh38
NC_000002.11:g.179455653G>C , CM000664.1:g.179455653G>C	GRCh37
NC_000002.10:g.179163899G>C	NCBI36
NG_011618.3:g.244877C>G , LRG_391:g.244877C>G
NG_051363.1:g.73100G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53095C>G (TTN)	ENSP00000343764.6:p.His17699Asp
ENST00000342175.11:c.34180C>G (TTN)	ENSP00000340554.6:p.His11394Asp
ENST00000359218.10:c.33979C>G (TTN)	ENSP00000352154.5:p.His11327Asp
ENST00000342175.10:c.34180C>G (TTN)	ENSP00000340554.6:p.His11394Asp
ENST00000342992.10:c.53095C>G (TTN)	ENSP00000343764.6:p.His17699Asp
ENST00000359218.9:c.33979C>G (TTN)	ENSP00000352154.5:p.His11327Asp
ENST00000460472.6:c.33604C>G (TTN)	ENSP00000434586.1:p.His11202Asp
ENST00000589042.5:c.60799C>G (TTN) MANE Select	ENSP00000467141.1:p.His20267Asp
ENST00000591111.5:c.55876C>G (TTN)	ENSP00000465570.1:p.His18626Asp
ENST00000615779.4:c.55876C>G (TTN)	ENSP00000483597.1:p.His18626Asp
NM_001256850.1:c.55876C>G (TTN)	NP_001243779.1:p.His18626Asp
NM_001267550.2:c.60799C>G (TTN) MANE Select	NP_001254479.2:p.His20267Asp
NM_003319.4:c.33604C>G (TTN)	NP_003310.4:p.His11202Asp
NM_133378.4:c.53095C>G (TTN)	NP_596869.4:p.His17699Asp
NM_133432.3:c.33979C>G (TTN)	NP_597676.3:p.His11327Asp
NM_133437.4:c.34180C>G (TTN)	NP_597681.4:p.His11394Asp
NR_038271.1:n.597-6670G>C (TTN-AS1)
NR_038272.1:n.3189-213G>C (TTN-AS1)
XM_011511729.1:c.59896C>G (TTN)	XP_011510031.1:p.His19966Asp
XM_011511730.1:c.33790C>G (TTN)	XP_011510032.1:p.His11264Asp
XM_011511731.1:c.33649C>G (TTN)	XP_011510033.1:p.His11217Asp
XM_017004819.1:c.59692C>G (TTN)	XP_016860308.1:p.His19898Asp
XM_017004820.1:c.55090C>G (TTN)	XP_016860309.1:p.His18364Asp
XM_017004821.1:c.55087C>G (TTN)	XP_016860310.1:p.His18363Asp
XM_017004822.1:c.52129C>G (TTN)	XP_016860311.1:p.His17377Asp
XM_017004823.1:c.33745C>G (TTN)	XP_016860312.1:p.His11249Asp
XM_024453094.1:c.55240C>G (TTN)	XP_024308862.1:p.His18414Asp
XM_024453095.1:c.55237C>G (TTN)	XP_024308863.1:p.His18413Asp
XM_024453096.1:c.54670C>G (TTN)	XP_024308864.1:p.His18224Asp
XM_024453097.1:c.52012C>G (TTN)	XP_024308865.1:p.His17338Asp
XM_024453098.1:c.51931C>G (TTN)	XP_024308866.1:p.His17311Asp
XM_024453099.1:c.33694C>G (TTN)	XP_024308867.1:p.His11232Asp
XM_024453100.1:c.23548C>G (TTN)	XP_024308868.1:p.His7850Asp