Canonical Allele Identifier: CA349406208

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395036C>T (hg19) ; chr2:g.178530309C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530309C>T , CM000664.2:g.178530309C>T	GRCh38
NC_000002.11:g.179395036C>T , CM000664.1:g.179395036C>T	GRCh37
NC_000002.10:g.179103282C>T	NCBI36
NG_011618.3:g.305494G>A , LRG_391:g.305494G>A
NG_051363.1:g.12483C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98602G>A (TTN)	ENSP00000343764.6:p.Val32868Ile
ENST00000342175.11:c.79687G>A (TTN)	ENSP00000340554.6:p.Val26563Ile
ENST00000359218.10:c.79486G>A (TTN)	ENSP00000352154.5:p.Val26496Ile
ENST00000342175.10:c.79687G>A (TTN)	ENSP00000340554.6:p.Val26563Ile
ENST00000342992.10:c.98602G>A (TTN)	ENSP00000343764.6:p.Val32868Ile
ENST00000359218.9:c.79486G>A (TTN)	ENSP00000352154.5:p.Val26496Ile
ENST00000460472.6:c.79111G>A (TTN)	ENSP00000434586.1:p.Val26371Ile
ENST00000589042.5:c.106306G>A (TTN) MANE Select	ENSP00000467141.1:p.Val35436Ile
ENST00000591111.5:c.101383G>A (TTN)	ENSP00000465570.1:p.Val33795Ile
ENST00000615779.4:c.101383G>A (TTN)	ENSP00000483597.1:p.Val33795Ile
NM_001256850.1:c.101383G>A (TTN)	NP_001243779.1:p.Val33795Ile
NM_001267550.2:c.106306G>A (TTN) MANE Select	NP_001254479.2:p.Val35436Ile
NM_003319.4:c.79111G>A (TTN)	NP_003310.4:p.Val26371Ile
NM_133378.4:c.98602G>A (TTN)	NP_596869.4:p.Val32868Ile
NM_133432.3:c.79486G>A (TTN)	NP_597676.3:p.Val26496Ile
NM_133437.4:c.79687G>A (TTN)	NP_597681.4:p.Val26563Ile
NR_038271.1:n.446+6673C>T (TTN-AS1)
NR_038272.1:n.220-5423C>T (TTN-AS1)
XM_011511729.1:c.105403G>A (TTN)	XP_011510031.1:p.Val35135Ile
XM_011511730.1:c.79297G>A (TTN)	XP_011510032.1:p.Val26433Ile
XM_011511731.1:c.79156G>A (TTN)	XP_011510033.1:p.Val26386Ile
XM_017004819.1:c.105199G>A (TTN)	XP_016860308.1:p.Val35067Ile
XM_017004820.1:c.100597G>A (TTN)	XP_016860309.1:p.Val33533Ile
XM_017004821.1:c.100594G>A (TTN)	XP_016860310.1:p.Val33532Ile
XM_017004822.1:c.97636G>A (TTN)	XP_016860311.1:p.Val32546Ile
XM_017004823.1:c.79252G>A (TTN)	XP_016860312.1:p.Val26418Ile
XM_024453094.1:c.100747G>A (TTN)	XP_024308862.1:p.Val33583Ile
XM_024453095.1:c.100744G>A (TTN)	XP_024308863.1:p.Val33582Ile
XM_024453096.1:c.100177G>A (TTN)	XP_024308864.1:p.Val33393Ile
XM_024453097.1:c.97519G>A (TTN)	XP_024308865.1:p.Val32507Ile
XM_024453098.1:c.97438G>A (TTN)	XP_024308866.1:p.Val32480Ile
XM_024453099.1:c.79201G>A (TTN)	XP_024308867.1:p.Val26401Ile
XM_024453100.1:c.69055G>A (TTN)	XP_024308868.1:p.Val23019Ile