Canonical Allele Identifier: CA349411809

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396940T>A (hg19) ; chr2:g.178532213T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532213T>A , CM000664.2:g.178532213T>A	GRCh38
NC_000002.11:g.179396940T>A , CM000664.1:g.179396940T>A	GRCh37
NC_000002.10:g.179105186T>A	NCBI36
NG_011618.3:g.303590A>T , LRG_391:g.303590A>T
NG_051363.1:g.14387T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96698A>T (TTN)	ENSP00000343764.6:p.Lys32233Met
ENST00000342175.11:c.77783A>T (TTN)	ENSP00000340554.6:p.Lys25928Met
ENST00000359218.10:c.77582A>T (TTN)	ENSP00000352154.5:p.Lys25861Met
ENST00000342175.10:c.77783A>T (TTN)	ENSP00000340554.6:p.Lys25928Met
ENST00000342992.10:c.96698A>T (TTN)	ENSP00000343764.6:p.Lys32233Met
ENST00000359218.9:c.77582A>T (TTN)	ENSP00000352154.5:p.Lys25861Met
ENST00000460472.6:c.77207A>T (TTN)	ENSP00000434586.1:p.Lys25736Met
ENST00000589042.5:c.104402A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys34801Met
ENST00000591111.5:c.99479A>T (TTN)	ENSP00000465570.1:p.Lys33160Met
ENST00000615779.4:c.99479A>T (TTN)	ENSP00000483597.1:p.Lys33160Met
NM_001256850.1:c.99479A>T (TTN)	NP_001243779.1:p.Lys33160Met
NM_001267550.2:c.104402A>T (TTN) MANE Select	NP_001254479.2:p.Lys34801Met
NM_003319.4:c.77207A>T (TTN)	NP_003310.4:p.Lys25736Met
NM_133378.4:c.96698A>T (TTN)	NP_596869.4:p.Lys32233Met
NM_133432.3:c.77582A>T (TTN)	NP_597676.3:p.Lys25861Met
NM_133437.4:c.77783A>T (TTN)	NP_597681.4:p.Lys25928Met
NR_038271.1:n.446+8577T>A (TTN-AS1)
NR_038272.1:n.220-3519T>A (TTN-AS1)
XM_011511729.1:c.103499A>T (TTN)	XP_011510031.1:p.Lys34500Met
XM_011511730.1:c.77393A>T (TTN)	XP_011510032.1:p.Lys25798Met
XM_011511731.1:c.77252A>T (TTN)	XP_011510033.1:p.Lys25751Met
XM_017004819.1:c.103295A>T (TTN)	XP_016860308.1:p.Lys34432Met
XM_017004820.1:c.98693A>T (TTN)	XP_016860309.1:p.Lys32898Met
XM_017004821.1:c.98690A>T (TTN)	XP_016860310.1:p.Lys32897Met
XM_017004822.1:c.95732A>T (TTN)	XP_016860311.1:p.Lys31911Met
XM_017004823.1:c.77348A>T (TTN)	XP_016860312.1:p.Lys25783Met
XM_024453094.1:c.98843A>T (TTN)	XP_024308862.1:p.Lys32948Met
XM_024453095.1:c.98840A>T (TTN)	XP_024308863.1:p.Lys32947Met
XM_024453096.1:c.98273A>T (TTN)	XP_024308864.1:p.Lys32758Met
XM_024453097.1:c.95615A>T (TTN)	XP_024308865.1:p.Lys31872Met
XM_024453098.1:c.95534A>T (TTN)	XP_024308866.1:p.Lys31845Met
XM_024453099.1:c.77297A>T (TTN)	XP_024308867.1:p.Lys25766Met
XM_024453100.1:c.67151A>T (TTN)	XP_024308868.1:p.Lys22384Met