Canonical Allele Identifier: CA349427903

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179402349C>A (hg19) ; chr2:g.178537622C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537622C>A , CM000664.2:g.178537622C>A	GRCh38
NC_000002.11:g.179402349C>A , CM000664.1:g.179402349C>A	GRCh37
NC_000002.10:g.179110595C>A	NCBI36
NG_011618.3:g.298181G>T , LRG_391:g.298181G>T
NG_051363.1:g.19796C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.91881G>T (TTN)	ENSP00000343764.6:p.Gln30627His
ENST00000342175.11:c.72966G>T (TTN)	ENSP00000340554.6:p.Gln24322His
ENST00000359218.10:c.72765G>T (TTN)	ENSP00000352154.5:p.Gln24255His
ENST00000342175.10:c.72966G>T (TTN)	ENSP00000340554.6:p.Gln24322His
ENST00000342992.10:c.91881G>T (TTN)	ENSP00000343764.6:p.Gln30627His
ENST00000359218.9:c.72765G>T (TTN)	ENSP00000352154.5:p.Gln24255His
ENST00000460472.6:c.72390G>T (TTN)	ENSP00000434586.1:p.Gln24130His
ENST00000589042.5:c.99585G>T (TTN) MANE Select	ENSP00000467141.1:p.Gln33195His
ENST00000591111.5:c.94662G>T (TTN)	ENSP00000465570.1:p.Gln31554His
ENST00000615779.4:c.94662G>T (TTN)	ENSP00000483597.1:p.Gln31554His
NM_001256850.1:c.94662G>T (TTN)	NP_001243779.1:p.Gln31554His
NM_001267550.2:c.99585G>T (TTN) MANE Select	NP_001254479.2:p.Gln33195His
NM_003319.4:c.72390G>T (TTN)	NP_003310.4:p.Gln24130His
NM_133378.4:c.91881G>T (TTN)	NP_596869.4:p.Gln30627His
NM_133432.3:c.72765G>T (TTN)	NP_597676.3:p.Gln24255His
NM_133437.4:c.72966G>T (TTN)	NP_597681.4:p.Gln24322His
NR_038271.1:n.446+13986C>A (TTN-AS1)
NR_038272.1:n.578C>A (TTN-AS1)
XM_011511729.1:c.98682G>T (TTN)	XP_011510031.1:p.Gln32894His
XM_011511730.1:c.72576G>T (TTN)	XP_011510032.1:p.Gln24192His
XM_011511731.1:c.72435G>T (TTN)	XP_011510033.1:p.Gln24145His
XM_017004819.1:c.98478G>T (TTN)	XP_016860308.1:p.Gln32826His
XM_017004820.1:c.93876G>T (TTN)	XP_016860309.1:p.Gln31292His
XM_017004821.1:c.93873G>T (TTN)	XP_016860310.1:p.Gln31291His
XM_017004822.1:c.90915G>T (TTN)	XP_016860311.1:p.Gln30305His
XM_017004823.1:c.72531G>T (TTN)	XP_016860312.1:p.Gln24177His
XM_024453094.1:c.94026G>T (TTN)	XP_024308862.1:p.Gln31342His
XM_024453095.1:c.94023G>T (TTN)	XP_024308863.1:p.Gln31341His
XM_024453096.1:c.93456G>T (TTN)	XP_024308864.1:p.Gln31152His
XM_024453097.1:c.90798G>T (TTN)	XP_024308865.1:p.Gln30266His
XM_024453098.1:c.90717G>T (TTN)	XP_024308866.1:p.Gln30239His
XM_024453099.1:c.72480G>T (TTN)	XP_024308867.1:p.Gln24160His
XM_024453100.1:c.62334G>T (TTN)	XP_024308868.1:p.Gln20778His