Canonical Allele Identifier: CA1987801

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 290716
• ClinVar RCV Id: RCV000304138 ; RCV000619523 ; RCV000726536
• dbSNP Id: rs368516973
• ExAC: 2:179417295 A / G
• gnomAD v2: 2-179417295-A-G
• gnomAD v3: 2-178552568-A-G
• gnomAD v4: 2-178552568-A-G
• MyVariant Identifiers: chr2:g.179417295A>G (hg19) ; chr2:g.178552568A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552568A>G , CM000664.2:g.178552568A>G	GRCh38
NC_000002.11:g.179417295A>G , CM000664.1:g.179417295A>G	GRCh37
NC_000002.10:g.179125541A>G	NCBI36
NG_011618.3:g.283235T>C , LRG_391:g.283235T>C
NG_051363.1:g.34742A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82628T>C (TTN)	ENSP00000343764.6:p.Leu27543Pro
ENST00000342175.11:c.63713T>C (TTN)	ENSP00000340554.6:p.Leu21238Pro
ENST00000359218.10:c.63512T>C (TTN)	ENSP00000352154.5:p.Leu21171Pro
ENST00000342175.10:c.63713T>C (TTN)	ENSP00000340554.6:p.Leu21238Pro
ENST00000342992.10:c.82628T>C (TTN)	ENSP00000343764.6:p.Leu27543Pro
ENST00000359218.9:c.63512T>C (TTN)	ENSP00000352154.5:p.Leu21171Pro
ENST00000460472.6:c.63137T>C (TTN)	ENSP00000434586.1:p.Leu21046Pro
ENST00000589042.5:c.90332T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu30111Pro
ENST00000591111.5:c.85409T>C (TTN)	ENSP00000465570.1:p.Leu28470Pro
ENST00000615779.4:c.85409T>C (TTN)	ENSP00000483597.1:p.Leu28470Pro
NM_001256850.1:c.85409T>C (TTN)	NP_001243779.1:p.Leu28470Pro
NM_001267550.2:c.90332T>C (TTN) MANE Select	NP_001254479.2:p.Leu30111Pro
NM_003319.4:c.63137T>C (TTN)	NP_003310.4:p.Leu21046Pro
NM_133378.4:c.82628T>C (TTN)	NP_596869.4:p.Leu27543Pro
NM_133432.3:c.63512T>C (TTN)	NP_597676.3:p.Leu21171Pro
NM_133437.4:c.63713T>C (TTN)	NP_597681.4:p.Leu21238Pro
NR_038271.1:n.447-18732A>G (TTN-AS1)
NR_038272.1:n.2043+10207A>G (TTN-AS1)
XM_011511729.1:c.89429T>C (TTN)	XP_011510031.1:p.Leu29810Pro
XM_011511730.1:c.63323T>C (TTN)	XP_011510032.1:p.Leu21108Pro
XM_011511731.1:c.63182T>C (TTN)	XP_011510033.1:p.Leu21061Pro
XM_017004819.1:c.89225T>C (TTN)	XP_016860308.1:p.Leu29742Pro
XM_017004820.1:c.84623T>C (TTN)	XP_016860309.1:p.Leu28208Pro
XM_017004821.1:c.84620T>C (TTN)	XP_016860310.1:p.Leu28207Pro
XM_017004822.1:c.81662T>C (TTN)	XP_016860311.1:p.Leu27221Pro
XM_017004823.1:c.63278T>C (TTN)	XP_016860312.1:p.Leu21093Pro
XM_024453094.1:c.84773T>C (TTN)	XP_024308862.1:p.Leu28258Pro
XM_024453095.1:c.84770T>C (TTN)	XP_024308863.1:p.Leu28257Pro
XM_024453096.1:c.84203T>C (TTN)	XP_024308864.1:p.Leu28068Pro
XM_024453097.1:c.81545T>C (TTN)	XP_024308865.1:p.Leu27182Pro
XM_024453098.1:c.81464T>C (TTN)	XP_024308866.1:p.Leu27155Pro
XM_024453099.1:c.63227T>C (TTN)	XP_024308867.1:p.Leu21076Pro
XM_024453100.1:c.53081T>C (TTN)	XP_024308868.1:p.Leu17694Pro