Canonical Allele Identifier: CA349479928

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1211735152
• gnomAD v2: 2-179412469-C-T
• gnomAD v4: 2-178547742-C-T
• MyVariant Identifiers: chr2:g.179412469C>T (hg19) ; chr2:g.178547742C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178547742C>T , CM000664.2:g.178547742C>T	GRCh38
NC_000002.11:g.179412469C>T , CM000664.1:g.179412469C>T	GRCh37
NC_000002.10:g.179120715C>T	NCBI36
NG_011618.3:g.288061G>A , LRG_391:g.288061G>A
NG_051363.1:g.29916C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86180G>A (TTN)	ENSP00000343764.6:p.Gly28727Asp
ENST00000342175.11:c.67265G>A (TTN)	ENSP00000340554.6:p.Gly22422Asp
ENST00000359218.10:c.67064G>A (TTN)	ENSP00000352154.5:p.Gly22355Asp
ENST00000342175.10:c.67265G>A (TTN)	ENSP00000340554.6:p.Gly22422Asp
ENST00000342992.10:c.86180G>A (TTN)	ENSP00000343764.6:p.Gly28727Asp
ENST00000359218.9:c.67064G>A (TTN)	ENSP00000352154.5:p.Gly22355Asp
ENST00000460472.6:c.66689G>A (TTN)	ENSP00000434586.1:p.Gly22230Asp
ENST00000589042.5:c.93884G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly31295Asp
ENST00000591111.5:c.88961G>A (TTN)	ENSP00000465570.1:p.Gly29654Asp
ENST00000615779.4:c.88961G>A (TTN)	ENSP00000483597.1:p.Gly29654Asp
NM_001256850.1:c.88961G>A (TTN)	NP_001243779.1:p.Gly29654Asp
NM_001267550.2:c.93884G>A (TTN) MANE Select	NP_001254479.2:p.Gly31295Asp
NM_003319.4:c.66689G>A (TTN)	NP_003310.4:p.Gly22230Asp
NM_133378.4:c.86180G>A (TTN)	NP_596869.4:p.Gly28727Asp
NM_133432.3:c.67064G>A (TTN)	NP_597676.3:p.Gly22355Asp
NM_133437.4:c.67265G>A (TTN)	NP_597681.4:p.Gly22422Asp
NR_038271.1:n.447-23558C>T (TTN-AS1)
NR_038272.1:n.2043+5381C>T (TTN-AS1)
XM_011511729.1:c.92981G>A (TTN)	XP_011510031.1:p.Gly30994Asp
XM_011511730.1:c.66875G>A (TTN)	XP_011510032.1:p.Gly22292Asp
XM_011511731.1:c.66734G>A (TTN)	XP_011510033.1:p.Gly22245Asp
XM_017004819.1:c.92777G>A (TTN)	XP_016860308.1:p.Gly30926Asp
XM_017004820.1:c.88175G>A (TTN)	XP_016860309.1:p.Gly29392Asp
XM_017004821.1:c.88172G>A (TTN)	XP_016860310.1:p.Gly29391Asp
XM_017004822.1:c.85214G>A (TTN)	XP_016860311.1:p.Gly28405Asp
XM_017004823.1:c.66830G>A (TTN)	XP_016860312.1:p.Gly22277Asp
XM_024453094.1:c.88325G>A (TTN)	XP_024308862.1:p.Gly29442Asp
XM_024453095.1:c.88322G>A (TTN)	XP_024308863.1:p.Gly29441Asp
XM_024453096.1:c.87755G>A (TTN)	XP_024308864.1:p.Gly29252Asp
XM_024453097.1:c.85097G>A (TTN)	XP_024308865.1:p.Gly28366Asp
XM_024453098.1:c.85016G>A (TTN)	XP_024308866.1:p.Gly28339Asp
XM_024453099.1:c.66779G>A (TTN)	XP_024308867.1:p.Gly22260Asp
XM_024453100.1:c.56633G>A (TTN)	XP_024308868.1:p.Gly18878Asp