Canonical Allele Identifier: CA349519013

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179418364C>G (hg19) ; chr2:g.178553637C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178553637C>G , CM000664.2:g.178553637C>G	GRCh38
NC_000002.11:g.179418364C>G , CM000664.1:g.179418364C>G	GRCh37
NC_000002.10:g.179126610C>G	NCBI36
NG_011618.3:g.282166G>C , LRG_391:g.282166G>C
NG_051363.1:g.35811C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.81664G>C (TTN)	ENSP00000343764.6:p.Val27222Leu
ENST00000342175.11:c.62749G>C (TTN)	ENSP00000340554.6:p.Val20917Leu
ENST00000359218.10:c.62548G>C (TTN)	ENSP00000352154.5:p.Val20850Leu
ENST00000342175.10:c.62749G>C (TTN)	ENSP00000340554.6:p.Val20917Leu
ENST00000342992.10:c.81664G>C (TTN)	ENSP00000343764.6:p.Val27222Leu
ENST00000359218.9:c.62548G>C (TTN)	ENSP00000352154.5:p.Val20850Leu
ENST00000460472.6:c.62173G>C (TTN)	ENSP00000434586.1:p.Val20725Leu
ENST00000589042.5:c.89368G>C (TTN) MANE Select	ENSP00000467141.1:p.Val29790Leu
ENST00000591111.5:c.84445G>C (TTN)	ENSP00000465570.1:p.Val28149Leu
ENST00000615779.4:c.84445G>C (TTN)	ENSP00000483597.1:p.Val28149Leu
NM_001256850.1:c.84445G>C (TTN)	NP_001243779.1:p.Val28149Leu
NM_001267550.2:c.89368G>C (TTN) MANE Select	NP_001254479.2:p.Val29790Leu
NM_003319.4:c.62173G>C (TTN)	NP_003310.4:p.Val20725Leu
NM_133378.4:c.81664G>C (TTN)	NP_596869.4:p.Val27222Leu
NM_133432.3:c.62548G>C (TTN)	NP_597676.3:p.Val20850Leu
NM_133437.4:c.62749G>C (TTN)	NP_597681.4:p.Val20917Leu
NR_038271.1:n.447-17663C>G (TTN-AS1)
NR_038272.1:n.2043+11276C>G (TTN-AS1)
XM_011511729.1:c.88465G>C (TTN)	XP_011510031.1:p.Val29489Leu
XM_011511730.1:c.62359G>C (TTN)	XP_011510032.1:p.Val20787Leu
XM_011511731.1:c.62218G>C (TTN)	XP_011510033.1:p.Val20740Leu
XM_017004819.1:c.88261G>C (TTN)	XP_016860308.1:p.Val29421Leu
XM_017004820.1:c.83659G>C (TTN)	XP_016860309.1:p.Val27887Leu
XM_017004821.1:c.83656G>C (TTN)	XP_016860310.1:p.Val27886Leu
XM_017004822.1:c.80698G>C (TTN)	XP_016860311.1:p.Val26900Leu
XM_017004823.1:c.62314G>C (TTN)	XP_016860312.1:p.Val20772Leu
XM_024453094.1:c.83809G>C (TTN)	XP_024308862.1:p.Val27937Leu
XM_024453095.1:c.83806G>C (TTN)	XP_024308863.1:p.Val27936Leu
XM_024453096.1:c.83239G>C (TTN)	XP_024308864.1:p.Val27747Leu
XM_024453097.1:c.80581G>C (TTN)	XP_024308865.1:p.Val26861Leu
XM_024453098.1:c.80500G>C (TTN)	XP_024308866.1:p.Val26834Leu
XM_024453099.1:c.62263G>C (TTN)	XP_024308867.1:p.Val20755Leu
XM_024453100.1:c.52117G>C (TTN)	XP_024308868.1:p.Val17373Leu