Canonical Allele Identifier: CA088467

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 222860
• ClinVar RCV Id: RCV000208381
• dbSNP Id: rs200797552
• MyVariant Identifiers: chr2:g.179442805C>A (hg19) ; chr2:g.178578078C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178578078C>A , CM000664.2:g.178578078C>A	GRCh38
NC_000002.11:g.179442805C>A , CM000664.1:g.179442805C>A	GRCh37
NC_000002.10:g.179151051C>A	NCBI36
NG_011618.3:g.257725G>T , LRG_391:g.257725G>T
NG_051363.1:g.60252C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.60733G>T (TTN)	ENSP00000343764.6:p.Glu20245Ter
ENST00000342175.11:c.41818G>T (TTN)	ENSP00000340554.6:p.Glu13940Ter
ENST00000359218.10:c.41617G>T (TTN)	ENSP00000352154.5:p.Glu13873Ter
ENST00000342175.10:c.41818G>T (TTN)	ENSP00000340554.6:p.Glu13940Ter
ENST00000342992.10:c.60733G>T (TTN)	ENSP00000343764.6:p.Glu20245Ter
ENST00000359218.9:c.41617G>T (TTN)	ENSP00000352154.5:p.Glu13873Ter
ENST00000460472.6:c.41242G>T (TTN)	ENSP00000434586.1:p.Glu13748Ter
ENST00000589042.5:c.68437G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu22813Ter
ENST00000591111.5:c.63514G>T (TTN)	ENSP00000465570.1:p.Glu21172Ter
ENST00000615779.4:c.63514G>T (TTN)	ENSP00000483597.1:p.Glu21172Ter
NM_001256850.1:c.63514G>T (TTN)	NP_001243779.1:p.Glu21172Ter
NM_001267550.2:c.68437G>T (TTN) MANE Select	NP_001254479.2:p.Glu22813Ter
NM_003319.4:c.41242G>T (TTN)	NP_003310.4:p.Glu13748Ter
NM_133378.4:c.60733G>T (TTN)	NP_596869.4:p.Glu20245Ter
NM_133432.3:c.41617G>T (TTN)	NP_597676.3:p.Glu13873Ter
NM_133437.4:c.41818G>T (TTN)	NP_597681.4:p.Glu13940Ter
NR_038271.1:n.596+6629C>A (TTN-AS1)
NR_038272.1:n.2044-4494C>A (TTN-AS1)
XM_011511729.1:c.67534G>T (TTN)	XP_011510031.1:p.Glu22512Ter
XM_011511730.1:c.41428G>T (TTN)	XP_011510032.1:p.Glu13810Ter
XM_011511731.1:c.41287G>T (TTN)	XP_011510033.1:p.Glu13763Ter
XM_017004819.1:c.67330G>T (TTN)	XP_016860308.1:p.Glu22444Ter
XM_017004820.1:c.62728G>T (TTN)	XP_016860309.1:p.Glu20910Ter
XM_017004821.1:c.62725G>T (TTN)	XP_016860310.1:p.Glu20909Ter
XM_017004822.1:c.59767G>T (TTN)	XP_016860311.1:p.Glu19923Ter
XM_017004823.1:c.41383G>T (TTN)	XP_016860312.1:p.Glu13795Ter
XM_024453094.1:c.62878G>T (TTN)	XP_024308862.1:p.Glu20960Ter
XM_024453095.1:c.62875G>T (TTN)	XP_024308863.1:p.Glu20959Ter
XM_024453096.1:c.62308G>T (TTN)	XP_024308864.1:p.Glu20770Ter
XM_024453097.1:c.59650G>T (TTN)	XP_024308865.1:p.Glu19884Ter
XM_024453098.1:c.59569G>T (TTN)	XP_024308866.1:p.Glu19857Ter
XM_024453099.1:c.41332G>T (TTN)	XP_024308867.1:p.Glu13778Ter
XM_024453100.1:c.31186G>T (TTN)	XP_024308868.1:p.Glu10396Ter