Canonical Allele Identifier: CA349427757

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179402282C>A (hg19) ; chr2:g.178537555C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537555C>A , CM000664.2:g.178537555C>A	GRCh38
NC_000002.11:g.179402282C>A , CM000664.1:g.179402282C>A	GRCh37
NC_000002.10:g.179110528C>A	NCBI36
NG_011618.3:g.298248G>T , LRG_391:g.298248G>T
NG_051363.1:g.19729C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.91948G>T (TTN)	ENSP00000343764.6:p.Val30650Phe
ENST00000342175.11:c.73033G>T (TTN)	ENSP00000340554.6:p.Val24345Phe
ENST00000359218.10:c.72832G>T (TTN)	ENSP00000352154.5:p.Val24278Phe
ENST00000342175.10:c.73033G>T (TTN)	ENSP00000340554.6:p.Val24345Phe
ENST00000342992.10:c.91948G>T (TTN)	ENSP00000343764.6:p.Val30650Phe
ENST00000359218.9:c.72832G>T (TTN)	ENSP00000352154.5:p.Val24278Phe
ENST00000460472.6:c.72457G>T (TTN)	ENSP00000434586.1:p.Val24153Phe
ENST00000589042.5:c.99652G>T (TTN) MANE Select	ENSP00000467141.1:p.Val33218Phe
ENST00000591111.5:c.94729G>T (TTN)	ENSP00000465570.1:p.Val31577Phe
ENST00000615779.4:c.94729G>T (TTN)	ENSP00000483597.1:p.Val31577Phe
NM_001256850.1:c.94729G>T (TTN)	NP_001243779.1:p.Val31577Phe
NM_001267550.2:c.99652G>T (TTN) MANE Select	NP_001254479.2:p.Val33218Phe
NM_003319.4:c.72457G>T (TTN)	NP_003310.4:p.Val24153Phe
NM_133378.4:c.91948G>T (TTN)	NP_596869.4:p.Val30650Phe
NM_133432.3:c.72832G>T (TTN)	NP_597676.3:p.Val24278Phe
NM_133437.4:c.73033G>T (TTN)	NP_597681.4:p.Val24345Phe
NR_038271.1:n.446+13919C>A (TTN-AS1)
NR_038272.1:n.511C>A (TTN-AS1)
XM_011511729.1:c.98749G>T (TTN)	XP_011510031.1:p.Val32917Phe
XM_011511730.1:c.72643G>T (TTN)	XP_011510032.1:p.Val24215Phe
XM_011511731.1:c.72502G>T (TTN)	XP_011510033.1:p.Val24168Phe
XM_017004819.1:c.98545G>T (TTN)	XP_016860308.1:p.Val32849Phe
XM_017004820.1:c.93943G>T (TTN)	XP_016860309.1:p.Val31315Phe
XM_017004821.1:c.93940G>T (TTN)	XP_016860310.1:p.Val31314Phe
XM_017004822.1:c.90982G>T (TTN)	XP_016860311.1:p.Val30328Phe
XM_017004823.1:c.72598G>T (TTN)	XP_016860312.1:p.Val24200Phe
XM_024453094.1:c.94093G>T (TTN)	XP_024308862.1:p.Val31365Phe
XM_024453095.1:c.94090G>T (TTN)	XP_024308863.1:p.Val31364Phe
XM_024453096.1:c.93523G>T (TTN)	XP_024308864.1:p.Val31175Phe
XM_024453097.1:c.90865G>T (TTN)	XP_024308865.1:p.Val30289Phe
XM_024453098.1:c.90784G>T (TTN)	XP_024308866.1:p.Val30262Phe
XM_024453099.1:c.72547G>T (TTN)	XP_024308867.1:p.Val24183Phe
XM_024453100.1:c.62401G>T (TTN)	XP_024308868.1:p.Val20801Phe