Canonical Allele Identifier: CA430256875

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179438697T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573970T>A , CM000664.2:g.178573970T>A	GRCh38
NC_000002.11:g.179438697T>A , CM000664.1:g.179438697T>A	GRCh37
NC_000002.10:g.179146943T>A	NCBI36
NG_011618.3:g.261833A>T , LRG_391:g.261833A>T
NG_051363.1:g.56144T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.64458A>T (TTN)	ENSP00000343764.6:p.Ser21486=
ENST00000342175.11:c.45543A>T (TTN)	ENSP00000340554.6:p.Ser15181=
ENST00000359218.10:c.45342A>T (TTN)	ENSP00000352154.5:p.Ser15114=
ENST00000342175.10:c.45543A>T (TTN)	ENSP00000340554.6:p.Ser15181=
ENST00000342992.10:c.64458A>T (TTN)	ENSP00000343764.6:p.Ser21486=
ENST00000359218.9:c.45342A>T (TTN)	ENSP00000352154.5:p.Ser15114=
ENST00000460472.6:c.44967A>T (TTN)	ENSP00000434586.1:p.Ser14989=
ENST00000589042.5:c.72162A>T (TTN) MANE Select	ENSP00000467141.1:p.Ser24054=
ENST00000591111.5:c.67239A>T (TTN)	ENSP00000465570.1:p.Ser22413=
ENST00000615779.4:c.67239A>T (TTN)	ENSP00000483597.1:p.Ser22413=
NM_001256850.1:c.67239A>T (TTN)	NP_001243779.1:p.Ser22413=
NM_001267550.2:c.72162A>T (TTN) MANE Select	NP_001254479.2:p.Ser24054=
NM_003319.4:c.44967A>T (TTN)	NP_003310.4:p.Ser14989=
NM_133378.4:c.64458A>T (TTN)	NP_596869.4:p.Ser21486=
NM_133432.3:c.45342A>T (TTN)	NP_597676.3:p.Ser15114=
NM_133437.4:c.45543A>T (TTN)	NP_597681.4:p.Ser15181=
NR_038271.1:n.596+2521T>A (TTN-AS1)
NR_038272.1:n.2044-8602T>A (TTN-AS1)
XM_011511729.1:c.71259A>T (TTN)	XP_011510031.1:p.Ser23753=
XM_011511730.1:c.45153A>T (TTN)	XP_011510032.1:p.Ser15051=
XM_011511731.1:c.45012A>T (TTN)	XP_011510033.1:p.Ser15004=
XM_017004819.1:c.71055A>T (TTN)	XP_016860308.1:p.Ser23685=
XM_017004820.1:c.66453A>T (TTN)	XP_016860309.1:p.Ser22151=
XM_017004821.1:c.66450A>T (TTN)	XP_016860310.1:p.Ser22150=
XM_017004822.1:c.63492A>T (TTN)	XP_016860311.1:p.Ser21164=
XM_017004823.1:c.45108A>T (TTN)	XP_016860312.1:p.Ser15036=
XM_024453094.1:c.66603A>T (TTN)	XP_024308862.1:p.Ser22201=
XM_024453095.1:c.66600A>T (TTN)	XP_024308863.1:p.Ser22200=
XM_024453096.1:c.66033A>T (TTN)	XP_024308864.1:p.Ser22011=
XM_024453097.1:c.63375A>T (TTN)	XP_024308865.1:p.Ser21125=
XM_024453098.1:c.63294A>T (TTN)	XP_024308866.1:p.Ser21098=
XM_024453099.1:c.45057A>T (TTN)	XP_024308867.1:p.Ser15019=
XM_024453100.1:c.34911A>T (TTN)	XP_024308868.1:p.Ser11637=