Canonical Allele Identifier: CA349411615

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396864T>A (hg19) ; chr2:g.178532137T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532137T>A , CM000664.2:g.178532137T>A	GRCh38
NC_000002.11:g.179396864T>A , CM000664.1:g.179396864T>A	GRCh37
NC_000002.10:g.179105110T>A	NCBI36
NG_011618.3:g.303666A>T , LRG_391:g.303666A>T
NG_051363.1:g.14311T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96774A>T (TTN)	ENSP00000343764.6:p.Gln32258His
ENST00000342175.11:c.77859A>T (TTN)	ENSP00000340554.6:p.Gln25953His
ENST00000359218.10:c.77658A>T (TTN)	ENSP00000352154.5:p.Gln25886His
ENST00000342175.10:c.77859A>T (TTN)	ENSP00000340554.6:p.Gln25953His
ENST00000342992.10:c.96774A>T (TTN)	ENSP00000343764.6:p.Gln32258His
ENST00000359218.9:c.77658A>T (TTN)	ENSP00000352154.5:p.Gln25886His
ENST00000460472.6:c.77283A>T (TTN)	ENSP00000434586.1:p.Gln25761His
ENST00000589042.5:c.104478A>T (TTN) MANE Select	ENSP00000467141.1:p.Gln34826His
ENST00000591111.5:c.99555A>T (TTN)	ENSP00000465570.1:p.Gln33185His
ENST00000615779.4:c.99555A>T (TTN)	ENSP00000483597.1:p.Gln33185His
NM_001256850.1:c.99555A>T (TTN)	NP_001243779.1:p.Gln33185His
NM_001267550.2:c.104478A>T (TTN) MANE Select	NP_001254479.2:p.Gln34826His
NM_003319.4:c.77283A>T (TTN)	NP_003310.4:p.Gln25761His
NM_133378.4:c.96774A>T (TTN)	NP_596869.4:p.Gln32258His
NM_133432.3:c.77658A>T (TTN)	NP_597676.3:p.Gln25886His
NM_133437.4:c.77859A>T (TTN)	NP_597681.4:p.Gln25953His
NR_038271.1:n.446+8501T>A (TTN-AS1)
NR_038272.1:n.220-3595T>A (TTN-AS1)
XM_011511729.1:c.103575A>T (TTN)	XP_011510031.1:p.Gln34525His
XM_011511730.1:c.77469A>T (TTN)	XP_011510032.1:p.Gln25823His
XM_011511731.1:c.77328A>T (TTN)	XP_011510033.1:p.Gln25776His
XM_017004819.1:c.103371A>T (TTN)	XP_016860308.1:p.Gln34457His
XM_017004820.1:c.98769A>T (TTN)	XP_016860309.1:p.Gln32923His
XM_017004821.1:c.98766A>T (TTN)	XP_016860310.1:p.Gln32922His
XM_017004822.1:c.95808A>T (TTN)	XP_016860311.1:p.Gln31936His
XM_017004823.1:c.77424A>T (TTN)	XP_016860312.1:p.Gln25808His
XM_024453094.1:c.98919A>T (TTN)	XP_024308862.1:p.Gln32973His
XM_024453095.1:c.98916A>T (TTN)	XP_024308863.1:p.Gln32972His
XM_024453096.1:c.98349A>T (TTN)	XP_024308864.1:p.Gln32783His
XM_024453097.1:c.95691A>T (TTN)	XP_024308865.1:p.Gln31897His
XM_024453098.1:c.95610A>T (TTN)	XP_024308866.1:p.Gln31870His
XM_024453099.1:c.77373A>T (TTN)	XP_024308867.1:p.Gln25791His
XM_024453100.1:c.67227A>T (TTN)	XP_024308868.1:p.Gln22409His