Canonical Allele Identifier: CA349407095

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395270C>A (hg19) ; chr2:g.178530543C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530543C>A , CM000664.2:g.178530543C>A	GRCh38
NC_000002.11:g.179395270C>A , CM000664.1:g.179395270C>A	GRCh37
NC_000002.10:g.179103516C>A	NCBI36
NG_011618.3:g.305260G>T , LRG_391:g.305260G>T
NG_051363.1:g.12717C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98368G>T (TTN)	ENSP00000343764.6:p.Val32790Phe
ENST00000342175.11:c.79453G>T (TTN)	ENSP00000340554.6:p.Val26485Phe
ENST00000359218.10:c.79252G>T (TTN)	ENSP00000352154.5:p.Val26418Phe
ENST00000342175.10:c.79453G>T (TTN)	ENSP00000340554.6:p.Val26485Phe
ENST00000342992.10:c.98368G>T (TTN)	ENSP00000343764.6:p.Val32790Phe
ENST00000359218.9:c.79252G>T (TTN)	ENSP00000352154.5:p.Val26418Phe
ENST00000460472.6:c.78877G>T (TTN)	ENSP00000434586.1:p.Val26293Phe
ENST00000589042.5:c.106072G>T (TTN) MANE Select	ENSP00000467141.1:p.Val35358Phe
ENST00000591111.5:c.101149G>T (TTN)	ENSP00000465570.1:p.Val33717Phe
ENST00000615779.4:c.101149G>T (TTN)	ENSP00000483597.1:p.Val33717Phe
NM_001256850.1:c.101149G>T (TTN)	NP_001243779.1:p.Val33717Phe
NM_001267550.2:c.106072G>T (TTN) MANE Select	NP_001254479.2:p.Val35358Phe
NM_003319.4:c.78877G>T (TTN)	NP_003310.4:p.Val26293Phe
NM_133378.4:c.98368G>T (TTN)	NP_596869.4:p.Val32790Phe
NM_133432.3:c.79252G>T (TTN)	NP_597676.3:p.Val26418Phe
NM_133437.4:c.79453G>T (TTN)	NP_597681.4:p.Val26485Phe
NR_038271.1:n.446+6907C>A (TTN-AS1)
NR_038272.1:n.220-5189C>A (TTN-AS1)
XM_011511729.1:c.105169G>T (TTN)	XP_011510031.1:p.Val35057Phe
XM_011511730.1:c.79063G>T (TTN)	XP_011510032.1:p.Val26355Phe
XM_011511731.1:c.78922G>T (TTN)	XP_011510033.1:p.Val26308Phe
XM_017004819.1:c.104965G>T (TTN)	XP_016860308.1:p.Val34989Phe
XM_017004820.1:c.100363G>T (TTN)	XP_016860309.1:p.Val33455Phe
XM_017004821.1:c.100360G>T (TTN)	XP_016860310.1:p.Val33454Phe
XM_017004822.1:c.97402G>T (TTN)	XP_016860311.1:p.Val32468Phe
XM_017004823.1:c.79018G>T (TTN)	XP_016860312.1:p.Val26340Phe
XM_024453094.1:c.100513G>T (TTN)	XP_024308862.1:p.Val33505Phe
XM_024453095.1:c.100510G>T (TTN)	XP_024308863.1:p.Val33504Phe
XM_024453096.1:c.99943G>T (TTN)	XP_024308864.1:p.Val33315Phe
XM_024453097.1:c.97285G>T (TTN)	XP_024308865.1:p.Val32429Phe
XM_024453098.1:c.97204G>T (TTN)	XP_024308866.1:p.Val32402Phe
XM_024453099.1:c.78967G>T (TTN)	XP_024308867.1:p.Val26323Phe
XM_024453100.1:c.68821G>T (TTN)	XP_024308868.1:p.Val22941Phe