Canonical Allele Identifier: CA349618857

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1784274
• ClinVar RCV Id: RCV002417211 ; RCV003235723
• gnomAD v4: 2-178618225-C-T
• MyVariant Identifiers: chr2:g.179482952C>T (hg19) ; chr2:g.178618225C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618225C>T , CM000664.2:g.178618225C>T	GRCh38
NC_000002.11:g.179482952C>T , CM000664.1:g.179482952C>T	GRCh37
NC_000002.10:g.179191197C>T	NCBI36
NG_011618.3:g.217578G>A , LRG_391:g.217578G>A
NG_051363.1:g.100399C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39529G>A (TTN)	ENSP00000343764.6:p.Glu13177Lys
ENST00000342175.11:c.20614G>A (TTN)	ENSP00000340554.6:p.Glu6872Lys
ENST00000359218.10:c.20413G>A (TTN)	ENSP00000352154.5:p.Glu6805Lys
ENST00000342175.10:c.20614G>A (TTN)	ENSP00000340554.6:p.Glu6872Lys
ENST00000342992.10:c.39529G>A (TTN)	ENSP00000343764.6:p.Glu13177Lys
ENST00000359218.9:c.20413G>A (TTN)	ENSP00000352154.5:p.Glu6805Lys
ENST00000460472.6:c.20038G>A (TTN)	ENSP00000434586.1:p.Glu6680Lys
ENST00000589042.5:c.47233G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu15745Lys
ENST00000591111.5:c.42310G>A (TTN)	ENSP00000465570.1:p.Glu14104Lys
ENST00000615779.4:c.42310G>A (TTN)	ENSP00000483597.1:p.Glu14104Lys
NM_001256850.1:c.42310G>A (TTN)	NP_001243779.1:p.Glu14104Lys
NM_001267550.2:c.47233G>A (TTN) MANE Select	NP_001254479.2:p.Glu15745Lys
NM_003319.4:c.20038G>A (TTN)	NP_003310.4:p.Glu6680Lys
NM_133378.4:c.39529G>A (TTN)	NP_596869.4:p.Glu13177Lys
NM_133432.3:c.20413G>A (TTN)	NP_597676.3:p.Glu6805Lys
NM_133437.4:c.20614G>A (TTN)	NP_597681.4:p.Glu6872Lys
NR_038271.1:n.1605-1528C>T (TTN-AS1)
XM_011511729.1:c.46330G>A (TTN)	XP_011510031.1:p.Glu15444Lys
XM_011511730.1:c.20224G>A (TTN)	XP_011510032.1:p.Glu6742Lys
XM_011511731.1:c.20083G>A (TTN)	XP_011510033.1:p.Glu6695Lys
XM_017004819.1:c.46126G>A (TTN)	XP_016860308.1:p.Glu15376Lys
XM_017004820.1:c.41524G>A (TTN)	XP_016860309.1:p.Glu13842Lys
XM_017004821.1:c.41521G>A (TTN)	XP_016860310.1:p.Glu13841Lys
XM_017004822.1:c.38563G>A (TTN)	XP_016860311.1:p.Glu12855Lys
XM_017004823.1:c.20179G>A (TTN)	XP_016860312.1:p.Glu6727Lys
XM_024453094.1:c.41674G>A (TTN)	XP_024308862.1:p.Glu13892Lys
XM_024453095.1:c.41671G>A (TTN)	XP_024308863.1:p.Glu13891Lys
XM_024453096.1:c.41104G>A (TTN)	XP_024308864.1:p.Glu13702Lys
XM_024453097.1:c.38446G>A (TTN)	XP_024308865.1:p.Glu12816Lys
XM_024453098.1:c.38365G>A (TTN)	XP_024308866.1:p.Glu12789Lys
XM_024453099.1:c.20128G>A (TTN)	XP_024308867.1:p.Glu6710Lys
XM_024453100.1:c.9982G>A (TTN)	XP_024308868.1:p.Glu3328Lys