Canonical Allele Identifier: CA349406037

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1452745293
• gnomAD v2: 2-179395011-G-A
• gnomAD v3: 2-178530284-G-A
• gnomAD v4: 2-178530284-G-A
• MyVariant Identifiers: chr2:g.179395011G>A (hg19) ; chr2:g.178530284G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530284G>A , CM000664.2:g.178530284G>A	GRCh38
NC_000002.11:g.179395011G>A , CM000664.1:g.179395011G>A	GRCh37
NC_000002.10:g.179103257G>A	NCBI36
NG_011618.3:g.305519C>T , LRG_391:g.305519C>T
NG_051363.1:g.12458G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98627C>T (TTN)	ENSP00000343764.6:p.Thr32876Ile
ENST00000342175.11:c.79712C>T (TTN)	ENSP00000340554.6:p.Thr26571Ile
ENST00000359218.10:c.79511C>T (TTN)	ENSP00000352154.5:p.Thr26504Ile
ENST00000342175.10:c.79712C>T (TTN)	ENSP00000340554.6:p.Thr26571Ile
ENST00000342992.10:c.98627C>T (TTN)	ENSP00000343764.6:p.Thr32876Ile
ENST00000359218.9:c.79511C>T (TTN)	ENSP00000352154.5:p.Thr26504Ile
ENST00000460472.6:c.79136C>T (TTN)	ENSP00000434586.1:p.Thr26379Ile
ENST00000589042.5:c.106331C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr35444Ile
ENST00000591111.5:c.101408C>T (TTN)	ENSP00000465570.1:p.Thr33803Ile
ENST00000615779.4:c.101408C>T (TTN)	ENSP00000483597.1:p.Thr33803Ile
NM_001256850.1:c.101408C>T (TTN)	NP_001243779.1:p.Thr33803Ile
NM_001267550.2:c.106331C>T (TTN) MANE Select	NP_001254479.2:p.Thr35444Ile
NM_003319.4:c.79136C>T (TTN)	NP_003310.4:p.Thr26379Ile
NM_133378.4:c.98627C>T (TTN)	NP_596869.4:p.Thr32876Ile
NM_133432.3:c.79511C>T (TTN)	NP_597676.3:p.Thr26504Ile
NM_133437.4:c.79712C>T (TTN)	NP_597681.4:p.Thr26571Ile
NR_038271.1:n.446+6648G>A (TTN-AS1)
NR_038272.1:n.220-5448G>A (TTN-AS1)
XM_011511729.1:c.105428C>T (TTN)	XP_011510031.1:p.Thr35143Ile
XM_011511730.1:c.79322C>T (TTN)	XP_011510032.1:p.Thr26441Ile
XM_011511731.1:c.79181C>T (TTN)	XP_011510033.1:p.Thr26394Ile
XM_017004819.1:c.105224C>T (TTN)	XP_016860308.1:p.Thr35075Ile
XM_017004820.1:c.100622C>T (TTN)	XP_016860309.1:p.Thr33541Ile
XM_017004821.1:c.100619C>T (TTN)	XP_016860310.1:p.Thr33540Ile
XM_017004822.1:c.97661C>T (TTN)	XP_016860311.1:p.Thr32554Ile
XM_017004823.1:c.79277C>T (TTN)	XP_016860312.1:p.Thr26426Ile
XM_024453094.1:c.100772C>T (TTN)	XP_024308862.1:p.Thr33591Ile
XM_024453095.1:c.100769C>T (TTN)	XP_024308863.1:p.Thr33590Ile
XM_024453096.1:c.100202C>T (TTN)	XP_024308864.1:p.Thr33401Ile
XM_024453097.1:c.97544C>T (TTN)	XP_024308865.1:p.Thr32515Ile
XM_024453098.1:c.97463C>T (TTN)	XP_024308866.1:p.Thr32488Ile
XM_024453099.1:c.79226C>T (TTN)	XP_024308867.1:p.Thr26409Ile
XM_024453100.1:c.69080C>T (TTN)	XP_024308868.1:p.Thr23027Ile