Canonical Allele Identifier: CA349665237

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2505131
• ClinVar RCV Id: RCV003233311
• MyVariant Identifiers: chr2:g.179440814C>A (hg19) ; chr2:g.178576087C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178576087C>A , CM000664.2:g.178576087C>A	GRCh38
NC_000002.11:g.179440814C>A , CM000664.1:g.179440814C>A	GRCh37
NC_000002.10:g.179149060C>A	NCBI36
NG_011618.3:g.259716G>T , LRG_391:g.259716G>T
NG_051363.1:g.58261C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.62341G>T (TTN)	ENSP00000343764.6:p.Glu20781Ter
ENST00000342175.11:c.43426G>T (TTN)	ENSP00000340554.6:p.Glu14476Ter
ENST00000359218.10:c.43225G>T (TTN)	ENSP00000352154.5:p.Glu14409Ter
ENST00000342175.10:c.43426G>T (TTN)	ENSP00000340554.6:p.Glu14476Ter
ENST00000342992.10:c.62341G>T (TTN)	ENSP00000343764.6:p.Glu20781Ter
ENST00000359218.9:c.43225G>T (TTN)	ENSP00000352154.5:p.Glu14409Ter
ENST00000460472.6:c.42850G>T (TTN)	ENSP00000434586.1:p.Glu14284Ter
ENST00000589042.5:c.70045G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu23349Ter
ENST00000591111.5:c.65122G>T (TTN)	ENSP00000465570.1:p.Glu21708Ter
ENST00000615779.4:c.65122G>T (TTN)	ENSP00000483597.1:p.Glu21708Ter
NM_001256850.1:c.65122G>T (TTN)	NP_001243779.1:p.Glu21708Ter
NM_001267550.2:c.70045G>T (TTN) MANE Select	NP_001254479.2:p.Glu23349Ter
NM_003319.4:c.42850G>T (TTN)	NP_003310.4:p.Glu14284Ter
NM_133378.4:c.62341G>T (TTN)	NP_596869.4:p.Glu20781Ter
NM_133432.3:c.43225G>T (TTN)	NP_597676.3:p.Glu14409Ter
NM_133437.4:c.43426G>T (TTN)	NP_597681.4:p.Glu14476Ter
NR_038271.1:n.596+4638C>A (TTN-AS1)
NR_038272.1:n.2044-6485C>A (TTN-AS1)
XM_011511729.1:c.69142G>T (TTN)	XP_011510031.1:p.Glu23048Ter
XM_011511730.1:c.43036G>T (TTN)	XP_011510032.1:p.Glu14346Ter
XM_011511731.1:c.42895G>T (TTN)	XP_011510033.1:p.Glu14299Ter
XM_017004819.1:c.68938G>T (TTN)	XP_016860308.1:p.Glu22980Ter
XM_017004820.1:c.64336G>T (TTN)	XP_016860309.1:p.Glu21446Ter
XM_017004821.1:c.64333G>T (TTN)	XP_016860310.1:p.Glu21445Ter
XM_017004822.1:c.61375G>T (TTN)	XP_016860311.1:p.Glu20459Ter
XM_017004823.1:c.42991G>T (TTN)	XP_016860312.1:p.Glu14331Ter
XM_024453094.1:c.64486G>T (TTN)	XP_024308862.1:p.Glu21496Ter
XM_024453095.1:c.64483G>T (TTN)	XP_024308863.1:p.Glu21495Ter
XM_024453096.1:c.63916G>T (TTN)	XP_024308864.1:p.Glu21306Ter
XM_024453097.1:c.61258G>T (TTN)	XP_024308865.1:p.Glu20420Ter
XM_024453098.1:c.61177G>T (TTN)	XP_024308866.1:p.Glu20393Ter
XM_024453099.1:c.42940G>T (TTN)	XP_024308867.1:p.Glu14314Ter
XM_024453100.1:c.32794G>T (TTN)	XP_024308868.1:p.Glu10932Ter