Canonical Allele Identifier: CA430267922

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179458758G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178594031G>T , CM000664.2:g.178594031G>T	GRCh38
NC_000002.11:g.179458758G>T , CM000664.1:g.179458758G>T	GRCh37
NC_000002.10:g.179167004G>T	NCBI36
NG_011618.3:g.241772C>A , LRG_391:g.241772C>A
NG_051363.1:g.76205G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.50658C>A (TTN)	ENSP00000343764.6:p.Ser16886=
ENST00000342175.11:c.31743C>A (TTN)	ENSP00000340554.6:p.Ser10581=
ENST00000359218.10:c.31542C>A (TTN)	ENSP00000352154.5:p.Ser10514=
ENST00000342175.10:c.31743C>A (TTN)	ENSP00000340554.6:p.Ser10581=
ENST00000342992.10:c.50658C>A (TTN)	ENSP00000343764.6:p.Ser16886=
ENST00000359218.9:c.31542C>A (TTN)	ENSP00000352154.5:p.Ser10514=
ENST00000460472.6:c.31167C>A (TTN)	ENSP00000434586.1:p.Ser10389=
ENST00000589042.5:c.58362C>A (TTN) MANE Select	ENSP00000467141.1:p.Ser19454=
ENST00000591111.5:c.53439C>A (TTN)	ENSP00000465570.1:p.Ser17813=
ENST00000615779.4:c.53439C>A (TTN)	ENSP00000483597.1:p.Ser17813=
NM_001256850.1:c.53439C>A (TTN)	NP_001243779.1:p.Ser17813=
NM_001267550.2:c.58362C>A (TTN) MANE Select	NP_001254479.2:p.Ser19454=
NM_003319.4:c.31167C>A (TTN)	NP_003310.4:p.Ser10389=
NM_133378.4:c.50658C>A (TTN)	NP_596869.4:p.Ser16886=
NM_133432.3:c.31542C>A (TTN)	NP_597676.3:p.Ser10514=
NM_133437.4:c.31743C>A (TTN)	NP_597681.4:p.Ser10581=
NR_038271.1:n.597-3565G>T (TTN-AS1)
NR_038272.1:n.3364+2717G>T (TTN-AS1)
XM_011511729.1:c.57459C>A (TTN)	XP_011510031.1:p.Ser19153=
XM_011511730.1:c.31353C>A (TTN)	XP_011510032.1:p.Ser10451=
XM_011511731.1:c.31212C>A (TTN)	XP_011510033.1:p.Ser10404=
XM_017004819.1:c.57255C>A (TTN)	XP_016860308.1:p.Ser19085=
XM_017004820.1:c.52653C>A (TTN)	XP_016860309.1:p.Ser17551=
XM_017004821.1:c.52650C>A (TTN)	XP_016860310.1:p.Ser17550=
XM_017004822.1:c.49692C>A (TTN)	XP_016860311.1:p.Ser16564=
XM_017004823.1:c.31308C>A (TTN)	XP_016860312.1:p.Ser10436=
XM_024453094.1:c.52803C>A (TTN)	XP_024308862.1:p.Ser17601=
XM_024453095.1:c.52800C>A (TTN)	XP_024308863.1:p.Ser17600=
XM_024453096.1:c.52233C>A (TTN)	XP_024308864.1:p.Ser17411=
XM_024453097.1:c.49575C>A (TTN)	XP_024308865.1:p.Ser16525=
XM_024453098.1:c.49494C>A (TTN)	XP_024308866.1:p.Ser16498=
XM_024453099.1:c.31257C>A (TTN)	XP_024308867.1:p.Ser10419=
XM_024453100.1:c.21111C>A (TTN)	XP_024308868.1:p.Ser7037=