Canonical Allele Identifier: CA349543388

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178559643-A-G
• MyVariant Identifiers: chr2:g.179424370A>G (hg19) ; chr2:g.178559643A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559643A>G , CM000664.2:g.178559643A>G	GRCh38
NC_000002.11:g.179424370A>G , CM000664.1:g.179424370A>G	GRCh37
NC_000002.10:g.179132616A>G	NCBI36
NG_011618.3:g.276160T>C , LRG_391:g.276160T>C
NG_051363.1:g.41817A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78785T>C (TTN)	ENSP00000343764.6:p.Val26262Ala
ENST00000342175.11:c.59870T>C (TTN)	ENSP00000340554.6:p.Val19957Ala
ENST00000359218.10:c.59669T>C (TTN)	ENSP00000352154.5:p.Val19890Ala
ENST00000342175.10:c.59870T>C (TTN)	ENSP00000340554.6:p.Val19957Ala
ENST00000342992.10:c.78785T>C (TTN)	ENSP00000343764.6:p.Val26262Ala
ENST00000359218.9:c.59669T>C (TTN)	ENSP00000352154.5:p.Val19890Ala
ENST00000460472.6:c.59294T>C (TTN)	ENSP00000434586.1:p.Val19765Ala
ENST00000589042.5:c.86489T>C (TTN) MANE Select	ENSP00000467141.1:p.Val28830Ala
ENST00000591111.5:c.81566T>C (TTN)	ENSP00000465570.1:p.Val27189Ala
ENST00000615779.4:c.81566T>C (TTN)	ENSP00000483597.1:p.Val27189Ala
NM_001256850.1:c.81566T>C (TTN)	NP_001243779.1:p.Val27189Ala
NM_001267550.2:c.86489T>C (TTN) MANE Select	NP_001254479.2:p.Val28830Ala
NM_003319.4:c.59294T>C (TTN)	NP_003310.4:p.Val19765Ala
NM_133378.4:c.78785T>C (TTN)	NP_596869.4:p.Val26262Ala
NM_133432.3:c.59669T>C (TTN)	NP_597676.3:p.Val19890Ala
NM_133437.4:c.59870T>C (TTN)	NP_597681.4:p.Val19957Ala
NR_038271.1:n.447-11657A>G (TTN-AS1)
NR_038272.1:n.2043+17282A>G (TTN-AS1)
XM_011511729.1:c.85586T>C (TTN)	XP_011510031.1:p.Val28529Ala
XM_011511730.1:c.59480T>C (TTN)	XP_011510032.1:p.Val19827Ala
XM_011511731.1:c.59339T>C (TTN)	XP_011510033.1:p.Val19780Ala
XM_017004819.1:c.85382T>C (TTN)	XP_016860308.1:p.Val28461Ala
XM_017004820.1:c.80780T>C (TTN)	XP_016860309.1:p.Val26927Ala
XM_017004821.1:c.80777T>C (TTN)	XP_016860310.1:p.Val26926Ala
XM_017004822.1:c.77819T>C (TTN)	XP_016860311.1:p.Val25940Ala
XM_017004823.1:c.59435T>C (TTN)	XP_016860312.1:p.Val19812Ala
XM_024453094.1:c.80930T>C (TTN)	XP_024308862.1:p.Val26977Ala
XM_024453095.1:c.80927T>C (TTN)	XP_024308863.1:p.Val26976Ala
XM_024453096.1:c.80360T>C (TTN)	XP_024308864.1:p.Val26787Ala
XM_024453097.1:c.77702T>C (TTN)	XP_024308865.1:p.Val25901Ala
XM_024453098.1:c.77621T>C (TTN)	XP_024308866.1:p.Val25874Ala
XM_024453099.1:c.59384T>C (TTN)	XP_024308867.1:p.Val19795Ala
XM_024453100.1:c.49238T>C (TTN)	XP_024308868.1:p.Val16413Ala