Canonical Allele Identifier: CA349488771

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179456716A>T (hg19) ; chr2:g.178591989A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591989A>T , CM000664.2:g.178591989A>T	GRCh38
NC_000002.11:g.179456716A>T , CM000664.1:g.179456716A>T	GRCh37
NC_000002.10:g.179164962A>T	NCBI36
NG_011618.3:g.243814T>A , LRG_391:g.243814T>A
NG_051363.1:g.74163A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52211T>A (TTN)	ENSP00000343764.6:p.Leu17404Ter
ENST00000342175.11:c.33296T>A (TTN)	ENSP00000340554.6:p.Leu11099Ter
ENST00000359218.10:c.33095T>A (TTN)	ENSP00000352154.5:p.Leu11032Ter
ENST00000342175.10:c.33296T>A (TTN)	ENSP00000340554.6:p.Leu11099Ter
ENST00000342992.10:c.52211T>A (TTN)	ENSP00000343764.6:p.Leu17404Ter
ENST00000359218.9:c.33095T>A (TTN)	ENSP00000352154.5:p.Leu11032Ter
ENST00000460472.6:c.32720T>A (TTN)	ENSP00000434586.1:p.Leu10907Ter
ENST00000589042.5:c.59915T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu19972Ter
ENST00000591111.5:c.54992T>A (TTN)	ENSP00000465570.1:p.Leu18331Ter
ENST00000615779.4:c.54992T>A (TTN)	ENSP00000483597.1:p.Leu18331Ter
NM_001256850.1:c.54992T>A (TTN)	NP_001243779.1:p.Leu18331Ter
NM_001267550.2:c.59915T>A (TTN) MANE Select	NP_001254479.2:p.Leu19972Ter
NM_003319.4:c.32720T>A (TTN)	NP_003310.4:p.Leu10907Ter
NM_133378.4:c.52211T>A (TTN)	NP_596869.4:p.Leu17404Ter
NM_133432.3:c.33095T>A (TTN)	NP_597676.3:p.Leu11032Ter
NM_133437.4:c.33296T>A (TTN)	NP_597681.4:p.Leu11099Ter
NR_038271.1:n.597-5607A>T (TTN-AS1)
NR_038272.1:n.3364+675A>T (TTN-AS1)
XM_011511729.1:c.59012T>A (TTN)	XP_011510031.1:p.Leu19671Ter
XM_011511730.1:c.32906T>A (TTN)	XP_011510032.1:p.Leu10969Ter
XM_011511731.1:c.32765T>A (TTN)	XP_011510033.1:p.Leu10922Ter
XM_017004819.1:c.58808T>A (TTN)	XP_016860308.1:p.Leu19603Ter
XM_017004820.1:c.54206T>A (TTN)	XP_016860309.1:p.Leu18069Ter
XM_017004821.1:c.54203T>A (TTN)	XP_016860310.1:p.Leu18068Ter
XM_017004822.1:c.51245T>A (TTN)	XP_016860311.1:p.Leu17082Ter
XM_017004823.1:c.32861T>A (TTN)	XP_016860312.1:p.Leu10954Ter
XM_024453094.1:c.54356T>A (TTN)	XP_024308862.1:p.Leu18119Ter
XM_024453095.1:c.54353T>A (TTN)	XP_024308863.1:p.Leu18118Ter
XM_024453096.1:c.53786T>A (TTN)	XP_024308864.1:p.Leu17929Ter
XM_024453097.1:c.51128T>A (TTN)	XP_024308865.1:p.Leu17043Ter
XM_024453098.1:c.51047T>A (TTN)	XP_024308866.1:p.Leu17016Ter
XM_024453099.1:c.32810T>A (TTN)	XP_024308867.1:p.Leu10937Ter
XM_024453100.1:c.22664T>A (TTN)	XP_024308868.1:p.Leu7555Ter