Canonical Allele Identifier: CA430244871

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178549859-T-A
• MyVariant Identifiers: chr2:g.179414586T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549859T>A , CM000664.2:g.178549859T>A	GRCh38
NC_000002.11:g.179414586T>A , CM000664.1:g.179414586T>A	GRCh37
NC_000002.10:g.179122832T>A	NCBI36
NG_011618.3:g.285944A>T , LRG_391:g.285944A>T
NG_051363.1:g.32033T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84159A>T (TTN)	ENSP00000343764.6:p.Gly28053=
ENST00000342175.11:c.65244A>T (TTN)	ENSP00000340554.6:p.Gly21748=
ENST00000359218.10:c.65043A>T (TTN)	ENSP00000352154.5:p.Gly21681=
ENST00000342175.10:c.65244A>T (TTN)	ENSP00000340554.6:p.Gly21748=
ENST00000342992.10:c.84159A>T (TTN)	ENSP00000343764.6:p.Gly28053=
ENST00000359218.9:c.65043A>T (TTN)	ENSP00000352154.5:p.Gly21681=
ENST00000460472.6:c.64668A>T (TTN)	ENSP00000434586.1:p.Gly21556=
ENST00000589042.5:c.91863A>T (TTN) MANE Select	ENSP00000467141.1:p.Gly30621=
ENST00000591111.5:c.86940A>T (TTN)	ENSP00000465570.1:p.Gly28980=
ENST00000615779.4:c.86940A>T (TTN)	ENSP00000483597.1:p.Gly28980=
NM_001256850.1:c.86940A>T (TTN)	NP_001243779.1:p.Gly28980=
NM_001267550.2:c.91863A>T (TTN) MANE Select	NP_001254479.2:p.Gly30621=
NM_003319.4:c.64668A>T (TTN)	NP_003310.4:p.Gly21556=
NM_133378.4:c.84159A>T (TTN)	NP_596869.4:p.Gly28053=
NM_133432.3:c.65043A>T (TTN)	NP_597676.3:p.Gly21681=
NM_133437.4:c.65244A>T (TTN)	NP_597681.4:p.Gly21748=
NR_038271.1:n.447-21441T>A (TTN-AS1)
NR_038272.1:n.2043+7498T>A (TTN-AS1)
XM_011511729.1:c.90960A>T (TTN)	XP_011510031.1:p.Gly30320=
XM_011511730.1:c.64854A>T (TTN)	XP_011510032.1:p.Gly21618=
XM_011511731.1:c.64713A>T (TTN)	XP_011510033.1:p.Gly21571=
XM_017004819.1:c.90756A>T (TTN)	XP_016860308.1:p.Gly30252=
XM_017004820.1:c.86154A>T (TTN)	XP_016860309.1:p.Gly28718=
XM_017004821.1:c.86151A>T (TTN)	XP_016860310.1:p.Gly28717=
XM_017004822.1:c.83193A>T (TTN)	XP_016860311.1:p.Gly27731=
XM_017004823.1:c.64809A>T (TTN)	XP_016860312.1:p.Gly21603=
XM_024453094.1:c.86304A>T (TTN)	XP_024308862.1:p.Gly28768=
XM_024453095.1:c.86301A>T (TTN)	XP_024308863.1:p.Gly28767=
XM_024453096.1:c.85734A>T (TTN)	XP_024308864.1:p.Gly28578=
XM_024453097.1:c.83076A>T (TTN)	XP_024308865.1:p.Gly27692=
XM_024453098.1:c.82995A>T (TTN)	XP_024308866.1:p.Gly27665=
XM_024453099.1:c.64758A>T (TTN)	XP_024308867.1:p.Gly21586=
XM_024453100.1:c.54612A>T (TTN)	XP_024308868.1:p.Gly18204=