Canonical Allele Identifier: CA1992742

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs746781472
• ExAC: 2:179457914 G / T
• gnomAD v2: 2-179457914-G-T
• gnomAD v4: 2-178593187-G-T
• MyVariant Identifiers: chr2:g.179457914G>T (hg19) ; chr2:g.178593187G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593187G>T , CM000664.2:g.178593187G>T	GRCh38
NC_000002.11:g.179457914G>T , CM000664.1:g.179457914G>T	GRCh37
NC_000002.10:g.179166160G>T	NCBI36
NG_011618.3:g.242616C>A , LRG_391:g.242616C>A
NG_051363.1:g.75361G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51317C>A (TTN)	ENSP00000343764.6:p.Ala17106Asp
ENST00000342175.11:c.32402C>A (TTN)	ENSP00000340554.6:p.Ala10801Asp
ENST00000359218.10:c.32201C>A (TTN)	ENSP00000352154.5:p.Ala10734Asp
ENST00000342175.10:c.32402C>A (TTN)	ENSP00000340554.6:p.Ala10801Asp
ENST00000342992.10:c.51317C>A (TTN)	ENSP00000343764.6:p.Ala17106Asp
ENST00000359218.9:c.32201C>A (TTN)	ENSP00000352154.5:p.Ala10734Asp
ENST00000460472.6:c.31826C>A (TTN)	ENSP00000434586.1:p.Ala10609Asp
ENST00000589042.5:c.59021C>A (TTN) MANE Select	ENSP00000467141.1:p.Ala19674Asp
ENST00000591111.5:c.54098C>A (TTN)	ENSP00000465570.1:p.Ala18033Asp
ENST00000615779.4:c.54098C>A (TTN)	ENSP00000483597.1:p.Ala18033Asp
NM_001256850.1:c.54098C>A (TTN)	NP_001243779.1:p.Ala18033Asp
NM_001267550.2:c.59021C>A (TTN) MANE Select	NP_001254479.2:p.Ala19674Asp
NM_003319.4:c.31826C>A (TTN)	NP_003310.4:p.Ala10609Asp
NM_133378.4:c.51317C>A (TTN)	NP_596869.4:p.Ala17106Asp
NM_133432.3:c.32201C>A (TTN)	NP_597676.3:p.Ala10734Asp
NM_133437.4:c.32402C>A (TTN)	NP_597681.4:p.Ala10801Asp
NR_038271.1:n.597-4409G>T (TTN-AS1)
NR_038272.1:n.3364+1873G>T (TTN-AS1)
XM_011511729.1:c.58118C>A (TTN)	XP_011510031.1:p.Ala19373Asp
XM_011511730.1:c.32012C>A (TTN)	XP_011510032.1:p.Ala10671Asp
XM_011511731.1:c.31871C>A (TTN)	XP_011510033.1:p.Ala10624Asp
XM_017004819.1:c.57914C>A (TTN)	XP_016860308.1:p.Ala19305Asp
XM_017004820.1:c.53312C>A (TTN)	XP_016860309.1:p.Ala17771Asp
XM_017004821.1:c.53309C>A (TTN)	XP_016860310.1:p.Ala17770Asp
XM_017004822.1:c.50351C>A (TTN)	XP_016860311.1:p.Ala16784Asp
XM_017004823.1:c.31967C>A (TTN)	XP_016860312.1:p.Ala10656Asp
XM_024453094.1:c.53462C>A (TTN)	XP_024308862.1:p.Ala17821Asp
XM_024453095.1:c.53459C>A (TTN)	XP_024308863.1:p.Ala17820Asp
XM_024453096.1:c.52892C>A (TTN)	XP_024308864.1:p.Ala17631Asp
XM_024453097.1:c.50234C>A (TTN)	XP_024308865.1:p.Ala16745Asp
XM_024453098.1:c.50153C>A (TTN)	XP_024308866.1:p.Ala16718Asp
XM_024453099.1:c.31916C>A (TTN)	XP_024308867.1:p.Ala10639Asp
XM_024453100.1:c.21770C>A (TTN)	XP_024308868.1:p.Ala7257Asp