Canonical Allele Identifier: CA349564251

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179427038C>G (hg19) ; chr2:g.178562311C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.76117G>C (TTN)	ENSP00000343764.6:p.Glu25373Gln
ENST00000342175.11:c.57202G>C (TTN)	ENSP00000340554.6:p.Glu19068Gln
ENST00000359218.10:c.57001G>C (TTN)	ENSP00000352154.5:p.Glu19001Gln
ENST00000342175.10:c.57202G>C (TTN)	ENSP00000340554.6:p.Glu19068Gln
ENST00000342992.10:c.76117G>C (TTN)	ENSP00000343764.6:p.Glu25373Gln
ENST00000359218.9:c.57001G>C (TTN)	ENSP00000352154.5:p.Glu19001Gln
ENST00000460472.6:c.56626G>C (TTN)	ENSP00000434586.1:p.Glu18876Gln
ENST00000589042.5:c.83821G>C (TTN) MANE Select	ENSP00000467141.1:p.Glu27941Gln
ENST00000591111.5:c.78898G>C (TTN)	ENSP00000465570.1:p.Glu26300Gln
ENST00000615779.4:c.78898G>C (TTN)	ENSP00000483597.1:p.Glu26300Gln
NM_001256850.1:c.78898G>C (TTN)	NP_001243779.1:p.Glu26300Gln
NM_001267550.2:c.83821G>C (TTN) MANE Select	NP_001254479.2:p.Glu27941Gln
NM_003319.4:c.56626G>C (TTN)	NP_003310.4:p.Glu18876Gln
NM_133378.4:c.76117G>C (TTN)	NP_596869.4:p.Glu25373Gln
NM_133432.3:c.57001G>C (TTN)	NP_597676.3:p.Glu19001Gln
NM_133437.4:c.57202G>C (TTN)	NP_597681.4:p.Glu19068Gln
NR_038271.1:n.447-8989C>G (TTN-AS1)
NR_038272.1:n.2043+19950C>G (TTN-AS1)
XM_011511729.1:c.82918G>C (TTN)	XP_011510031.1:p.Glu27640Gln
XM_011511730.1:c.56812G>C (TTN)	XP_011510032.1:p.Glu18938Gln
XM_011511731.1:c.56671G>C (TTN)	XP_011510033.1:p.Glu18891Gln
XM_017004819.1:c.82714G>C (TTN)	XP_016860308.1:p.Glu27572Gln
XM_017004820.1:c.78112G>C (TTN)	XP_016860309.1:p.Glu26038Gln
XM_017004821.1:c.78109G>C (TTN)	XP_016860310.1:p.Glu26037Gln
XM_017004822.1:c.75151G>C (TTN)	XP_016860311.1:p.Glu25051Gln
XM_017004823.1:c.56767G>C (TTN)	XP_016860312.1:p.Glu18923Gln
XM_024453094.1:c.78262G>C (TTN)	XP_024308862.1:p.Glu26088Gln
XM_024453095.1:c.78259G>C (TTN)	XP_024308863.1:p.Glu26087Gln
XM_024453096.1:c.77692G>C (TTN)	XP_024308864.1:p.Glu25898Gln
XM_024453097.1:c.75034G>C (TTN)	XP_024308865.1:p.Glu25012Gln
XM_024453098.1:c.74953G>C (TTN)	XP_024308866.1:p.Glu24985Gln
XM_024453099.1:c.56716G>C (TTN)	XP_024308867.1:p.Glu18906Gln
XM_024453100.1:c.46570G>C (TTN)	XP_024308868.1:p.Glu15524Gln