Canonical Allele Identifier: CA1988864

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 535688
• ClinVar RCV Id: RCV000643821 ; RCV003140027 ; RCV003403482
• dbSNP Id: rs545954394
• ExAC: 2:179427038 C / T
• gnomAD v2: 2-179427038-C-T
• gnomAD v3: 2-178562311-C-T
• gnomAD v4: 2-178562311-C-T
• COSMIC: COSM5860816 ; COSM5860817 ; COSM5860818 ; COSM5860819
• MyVariant Identifiers: chr2:g.179427038C>T (hg19) ; chr2:g.178562311C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178562311C>T , CM000664.2:g.178562311C>T	GRCh38
NC_000002.11:g.179427038C>T , CM000664.1:g.179427038C>T	GRCh37
NC_000002.10:g.179135284C>T	NCBI36
NG_011618.3:g.273492G>A , LRG_391:g.273492G>A
NG_051363.1:g.44485C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.76117G>A (TTN)	ENSP00000343764.6:p.Glu25373Lys
ENST00000342175.11:c.57202G>A (TTN)	ENSP00000340554.6:p.Glu19068Lys
ENST00000359218.10:c.57001G>A (TTN)	ENSP00000352154.5:p.Glu19001Lys
ENST00000342175.10:c.57202G>A (TTN)	ENSP00000340554.6:p.Glu19068Lys
ENST00000342992.10:c.76117G>A (TTN)	ENSP00000343764.6:p.Glu25373Lys
ENST00000359218.9:c.57001G>A (TTN)	ENSP00000352154.5:p.Glu19001Lys
ENST00000460472.6:c.56626G>A (TTN)	ENSP00000434586.1:p.Glu18876Lys
ENST00000589042.5:c.83821G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu27941Lys
ENST00000591111.5:c.78898G>A (TTN)	ENSP00000465570.1:p.Glu26300Lys
ENST00000615779.4:c.78898G>A (TTN)	ENSP00000483597.1:p.Glu26300Lys
NM_001256850.1:c.78898G>A (TTN)	NP_001243779.1:p.Glu26300Lys
NM_001267550.2:c.83821G>A (TTN) MANE Select	NP_001254479.2:p.Glu27941Lys
NM_003319.4:c.56626G>A (TTN)	NP_003310.4:p.Glu18876Lys
NM_133378.4:c.76117G>A (TTN)	NP_596869.4:p.Glu25373Lys
NM_133432.3:c.57001G>A (TTN)	NP_597676.3:p.Glu19001Lys
NM_133437.4:c.57202G>A (TTN)	NP_597681.4:p.Glu19068Lys
NR_038271.1:n.447-8989C>T (TTN-AS1)
NR_038272.1:n.2043+19950C>T (TTN-AS1)
XM_011511729.1:c.82918G>A (TTN)	XP_011510031.1:p.Glu27640Lys
XM_011511730.1:c.56812G>A (TTN)	XP_011510032.1:p.Glu18938Lys
XM_011511731.1:c.56671G>A (TTN)	XP_011510033.1:p.Glu18891Lys
XM_017004819.1:c.82714G>A (TTN)	XP_016860308.1:p.Glu27572Lys
XM_017004820.1:c.78112G>A (TTN)	XP_016860309.1:p.Glu26038Lys
XM_017004821.1:c.78109G>A (TTN)	XP_016860310.1:p.Glu26037Lys
XM_017004822.1:c.75151G>A (TTN)	XP_016860311.1:p.Glu25051Lys
XM_017004823.1:c.56767G>A (TTN)	XP_016860312.1:p.Glu18923Lys
XM_024453094.1:c.78262G>A (TTN)	XP_024308862.1:p.Glu26088Lys
XM_024453095.1:c.78259G>A (TTN)	XP_024308863.1:p.Glu26087Lys
XM_024453096.1:c.77692G>A (TTN)	XP_024308864.1:p.Glu25898Lys
XM_024453097.1:c.75034G>A (TTN)	XP_024308865.1:p.Glu25012Lys
XM_024453098.1:c.74953G>A (TTN)	XP_024308866.1:p.Glu24985Lys
XM_024453099.1:c.56716G>A (TTN)	XP_024308867.1:p.Glu18906Lys
XM_024453100.1:c.46570G>A (TTN)	XP_024308868.1:p.Glu15524Lys