Canonical Allele Identifier: CA349645164

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179494979A>C (hg19) ; chr2:g.178630252A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630252A>C , CM000664.2:g.178630252A>C	GRCh38
NC_000002.11:g.179494979A>C , CM000664.1:g.179494979A>C	GRCh37
NC_000002.10:g.179203224A>C	NCBI36
NG_011618.3:g.205551T>G , LRG_391:g.205551T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.36566T>G	ENSP00000343764.6:p.Leu12189Arg
ENST00000342175.11:c.17651T>G	ENSP00000340554.6:p.Leu5884Arg
ENST00000359218.10:c.17450T>G	ENSP00000352154.5:p.Leu5817Arg
ENST00000342175.10:c.17651T>G	ENSP00000340554.6:p.Leu5884Arg
ENST00000342992.10:c.36566T>G	ENSP00000343764.6:p.Leu12189Arg
ENST00000359218.9:c.17450T>G	ENSP00000352154.5:p.Leu5817Arg
ENST00000460472.6:c.17075T>G	ENSP00000434586.1:p.Leu5692Arg
ENST00000589042.5:c.44270T>G MANE Select	ENSP00000467141.1:p.Leu14757Arg
ENST00000591111.5:c.39347T>G	ENSP00000465570.1:p.Leu13116Arg
ENST00000615779.4:c.39347T>G	ENSP00000483597.1:p.Leu13116Arg
NM_001256850.1:c.39347T>G	NP_001243779.1:p.Leu13116Arg
NM_001267550.2:c.44270T>G MANE Select	NP_001254479.2:p.Leu14757Arg
NM_003319.4:c.17075T>G	NP_003310.4:p.Leu5692Arg
NM_133378.4:c.36566T>G	NP_596869.4:p.Leu12189Arg
NM_133432.3:c.17450T>G	NP_597676.3:p.Leu5817Arg
NM_133437.4:c.17651T>G	NP_597681.4:p.Leu5884Arg
XM_011511729.1:c.43367T>G	XP_011510031.1:p.Leu14456Arg
XM_011511730.1:c.17261T>G	XP_011510032.1:p.Leu5754Arg
XM_011511731.1:c.17120T>G	XP_011510033.1:p.Leu5707Arg
XM_017004819.1:c.43163T>G	XP_016860308.1:p.Leu14388Arg
XM_017004820.1:c.38561T>G	XP_016860309.1:p.Leu12854Arg
XM_017004821.1:c.38558T>G	XP_016860310.1:p.Leu12853Arg
XM_017004822.1:c.35600T>G	XP_016860311.1:p.Leu11867Arg
XM_017004823.1:c.17216T>G	XP_016860312.1:p.Leu5739Arg
XM_024453094.1:c.38711T>G	XP_024308862.1:p.Leu12904Arg
XM_024453095.1:c.38708T>G	XP_024308863.1:p.Leu12903Arg
XM_024453096.1:c.38141T>G	XP_024308864.1:p.Leu12714Arg
XM_024453097.1:c.35483T>G	XP_024308865.1:p.Leu11828Arg
XM_024453098.1:c.35402T>G	XP_024308866.1:p.Leu11801Arg
XM_024453099.1:c.17165T>G	XP_024308867.1:p.Leu5722Arg
XM_024453100.1:c.7019T>G	XP_024308868.1:p.Leu2340Arg