Canonical Allele Identifier: CA16617347

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 419495
• ClinVar RCV Id: RCV000482113 ; RCV001851164 ; RCV002341131
• dbSNP Id: rs1064793911
• MyVariant Identifiers: chr2:g.179431256G>A (hg19) ; chr2:g.178566529G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566529G>A , CM000664.2:g.178566529G>A	GRCh38
NC_000002.11:g.179431256G>A , CM000664.1:g.179431256G>A	GRCh37
NC_000002.10:g.179139502G>A	NCBI36
NG_011618.3:g.269274C>T , LRG_391:g.269274C>T
NG_051363.1:g.48703G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.71899C>T (TTN)	ENSP00000343764.6:p.Gln23967Ter
ENST00000342175.11:c.52984C>T (TTN)	ENSP00000340554.6:p.Gln17662Ter
ENST00000359218.10:c.52783C>T (TTN)	ENSP00000352154.5:p.Gln17595Ter
ENST00000342175.10:c.52984C>T (TTN)	ENSP00000340554.6:p.Gln17662Ter
ENST00000342992.10:c.71899C>T (TTN)	ENSP00000343764.6:p.Gln23967Ter
ENST00000359218.9:c.52783C>T (TTN)	ENSP00000352154.5:p.Gln17595Ter
ENST00000460472.6:c.52408C>T (TTN)	ENSP00000434586.1:p.Gln17470Ter
ENST00000589042.5:c.79603C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln26535Ter
ENST00000591111.5:c.74680C>T (TTN)	ENSP00000465570.1:p.Gln24894Ter
ENST00000615779.4:c.74680C>T (TTN)	ENSP00000483597.1:p.Gln24894Ter
NM_001256850.1:c.74680C>T (TTN)	NP_001243779.1:p.Gln24894Ter
NM_001267550.2:c.79603C>T (TTN) MANE Select	NP_001254479.2:p.Gln26535Ter
NM_003319.4:c.52408C>T (TTN)	NP_003310.4:p.Gln17470Ter
NM_133378.4:c.71899C>T (TTN)	NP_596869.4:p.Gln23967Ter
NM_133432.3:c.52783C>T (TTN)	NP_597676.3:p.Gln17595Ter
NM_133437.4:c.52984C>T (TTN)	NP_597681.4:p.Gln17662Ter
NR_038271.1:n.447-4771G>A (TTN-AS1)
NR_038272.1:n.2044-16043G>A (TTN-AS1)
XM_011511729.1:c.78700C>T (TTN)	XP_011510031.1:p.Gln26234Ter
XM_011511730.1:c.52594C>T (TTN)	XP_011510032.1:p.Gln17532Ter
XM_011511731.1:c.52453C>T (TTN)	XP_011510033.1:p.Gln17485Ter
XM_017004819.1:c.78496C>T (TTN)	XP_016860308.1:p.Gln26166Ter
XM_017004820.1:c.73894C>T (TTN)	XP_016860309.1:p.Gln24632Ter
XM_017004821.1:c.73891C>T (TTN)	XP_016860310.1:p.Gln24631Ter
XM_017004822.1:c.70933C>T (TTN)	XP_016860311.1:p.Gln23645Ter
XM_017004823.1:c.52549C>T (TTN)	XP_016860312.1:p.Gln17517Ter
XM_024453094.1:c.74044C>T (TTN)	XP_024308862.1:p.Gln24682Ter
XM_024453095.1:c.74041C>T (TTN)	XP_024308863.1:p.Gln24681Ter
XM_024453096.1:c.73474C>T (TTN)	XP_024308864.1:p.Gln24492Ter
XM_024453097.1:c.70816C>T (TTN)	XP_024308865.1:p.Gln23606Ter
XM_024453098.1:c.70735C>T (TTN)	XP_024308866.1:p.Gln23579Ter
XM_024453099.1:c.52498C>T (TTN)	XP_024308867.1:p.Gln17500Ter
XM_024453100.1:c.42352C>T (TTN)	XP_024308868.1:p.Gln14118Ter