Canonical Allele Identifier: CA349496418

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179414588C>T (hg19) ; chr2:g.178549861C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549861C>T , CM000664.2:g.178549861C>T	GRCh38
NC_000002.11:g.179414588C>T , CM000664.1:g.179414588C>T	GRCh37
NC_000002.10:g.179122834C>T	NCBI36
NG_011618.3:g.285942G>A , LRG_391:g.285942G>A
NG_051363.1:g.32035C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84157G>A (TTN)	ENSP00000343764.6:p.Gly28053Arg
ENST00000342175.11:c.65242G>A (TTN)	ENSP00000340554.6:p.Gly21748Arg
ENST00000359218.10:c.65041G>A (TTN)	ENSP00000352154.5:p.Gly21681Arg
ENST00000342175.10:c.65242G>A (TTN)	ENSP00000340554.6:p.Gly21748Arg
ENST00000342992.10:c.84157G>A (TTN)	ENSP00000343764.6:p.Gly28053Arg
ENST00000359218.9:c.65041G>A (TTN)	ENSP00000352154.5:p.Gly21681Arg
ENST00000460472.6:c.64666G>A (TTN)	ENSP00000434586.1:p.Gly21556Arg
ENST00000589042.5:c.91861G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly30621Arg
ENST00000591111.5:c.86938G>A (TTN)	ENSP00000465570.1:p.Gly28980Arg
ENST00000615779.4:c.86938G>A (TTN)	ENSP00000483597.1:p.Gly28980Arg
NM_001256850.1:c.86938G>A (TTN)	NP_001243779.1:p.Gly28980Arg
NM_001267550.2:c.91861G>A (TTN) MANE Select	NP_001254479.2:p.Gly30621Arg
NM_003319.4:c.64666G>A (TTN)	NP_003310.4:p.Gly21556Arg
NM_133378.4:c.84157G>A (TTN)	NP_596869.4:p.Gly28053Arg
NM_133432.3:c.65041G>A (TTN)	NP_597676.3:p.Gly21681Arg
NM_133437.4:c.65242G>A (TTN)	NP_597681.4:p.Gly21748Arg
NR_038271.1:n.447-21439C>T (TTN-AS1)
NR_038272.1:n.2043+7500C>T (TTN-AS1)
XM_011511729.1:c.90958G>A (TTN)	XP_011510031.1:p.Gly30320Arg
XM_011511730.1:c.64852G>A (TTN)	XP_011510032.1:p.Gly21618Arg
XM_011511731.1:c.64711G>A (TTN)	XP_011510033.1:p.Gly21571Arg
XM_017004819.1:c.90754G>A (TTN)	XP_016860308.1:p.Gly30252Arg
XM_017004820.1:c.86152G>A (TTN)	XP_016860309.1:p.Gly28718Arg
XM_017004821.1:c.86149G>A (TTN)	XP_016860310.1:p.Gly28717Arg
XM_017004822.1:c.83191G>A (TTN)	XP_016860311.1:p.Gly27731Arg
XM_017004823.1:c.64807G>A (TTN)	XP_016860312.1:p.Gly21603Arg
XM_024453094.1:c.86302G>A (TTN)	XP_024308862.1:p.Gly28768Arg
XM_024453095.1:c.86299G>A (TTN)	XP_024308863.1:p.Gly28767Arg
XM_024453096.1:c.85732G>A (TTN)	XP_024308864.1:p.Gly28578Arg
XM_024453097.1:c.83074G>A (TTN)	XP_024308865.1:p.Gly27692Arg
XM_024453098.1:c.82993G>A (TTN)	XP_024308866.1:p.Gly27665Arg
XM_024453099.1:c.64756G>A (TTN)	XP_024308867.1:p.Gly21586Arg
XM_024453100.1:c.54610G>A (TTN)	XP_024308868.1:p.Gly18204Arg