Canonical Allele Identifier: CA349511698

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179417290C>G (hg19) ; chr2:g.178552563C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552563C>G , CM000664.2:g.178552563C>G	GRCh38
NC_000002.11:g.179417290C>G , CM000664.1:g.179417290C>G	GRCh37
NC_000002.10:g.179125536C>G	NCBI36
NG_011618.3:g.283240G>C , LRG_391:g.283240G>C
NG_051363.1:g.34737C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82633G>C (TTN)	ENSP00000343764.6:p.Asp27545His
ENST00000342175.11:c.63718G>C (TTN)	ENSP00000340554.6:p.Asp21240His
ENST00000359218.10:c.63517G>C (TTN)	ENSP00000352154.5:p.Asp21173His
ENST00000342175.10:c.63718G>C (TTN)	ENSP00000340554.6:p.Asp21240His
ENST00000342992.10:c.82633G>C (TTN)	ENSP00000343764.6:p.Asp27545His
ENST00000359218.9:c.63517G>C (TTN)	ENSP00000352154.5:p.Asp21173His
ENST00000460472.6:c.63142G>C (TTN)	ENSP00000434586.1:p.Asp21048His
ENST00000589042.5:c.90337G>C (TTN) MANE Select	ENSP00000467141.1:p.Asp30113His
ENST00000591111.5:c.85414G>C (TTN)	ENSP00000465570.1:p.Asp28472His
ENST00000615779.4:c.85414G>C (TTN)	ENSP00000483597.1:p.Asp28472His
NM_001256850.1:c.85414G>C (TTN)	NP_001243779.1:p.Asp28472His
NM_001267550.2:c.90337G>C (TTN) MANE Select	NP_001254479.2:p.Asp30113His
NM_003319.4:c.63142G>C (TTN)	NP_003310.4:p.Asp21048His
NM_133378.4:c.82633G>C (TTN)	NP_596869.4:p.Asp27545His
NM_133432.3:c.63517G>C (TTN)	NP_597676.3:p.Asp21173His
NM_133437.4:c.63718G>C (TTN)	NP_597681.4:p.Asp21240His
NR_038271.1:n.447-18737C>G (TTN-AS1)
NR_038272.1:n.2043+10202C>G (TTN-AS1)
XM_011511729.1:c.89434G>C (TTN)	XP_011510031.1:p.Asp29812His
XM_011511730.1:c.63328G>C (TTN)	XP_011510032.1:p.Asp21110His
XM_011511731.1:c.63187G>C (TTN)	XP_011510033.1:p.Asp21063His
XM_017004819.1:c.89230G>C (TTN)	XP_016860308.1:p.Asp29744His
XM_017004820.1:c.84628G>C (TTN)	XP_016860309.1:p.Asp28210His
XM_017004821.1:c.84625G>C (TTN)	XP_016860310.1:p.Asp28209His
XM_017004822.1:c.81667G>C (TTN)	XP_016860311.1:p.Asp27223His
XM_017004823.1:c.63283G>C (TTN)	XP_016860312.1:p.Asp21095His
XM_024453094.1:c.84778G>C (TTN)	XP_024308862.1:p.Asp28260His
XM_024453095.1:c.84775G>C (TTN)	XP_024308863.1:p.Asp28259His
XM_024453096.1:c.84208G>C (TTN)	XP_024308864.1:p.Asp28070His
XM_024453097.1:c.81550G>C (TTN)	XP_024308865.1:p.Asp27184His
XM_024453098.1:c.81469G>C (TTN)	XP_024308866.1:p.Asp27157His
XM_024453099.1:c.63232G>C (TTN)	XP_024308867.1:p.Asp21078His
XM_024453100.1:c.53086G>C (TTN)	XP_024308868.1:p.Asp17696His