Canonical Allele Identifier: CA349495694

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1237954818
• gnomAD v2: 2-179414516-G-A
• gnomAD v3: 2-178549789-G-A
• gnomAD v4: 2-178549789-G-A
• COSMIC: COSM3961638 ; COSM3961639 ; COSM3961640 ; COSM3961641
• MyVariant Identifiers: chr2:g.179414516G>A (hg19) ; chr2:g.178549789G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549789G>A , CM000664.2:g.178549789G>A	GRCh38
NC_000002.11:g.179414516G>A , CM000664.1:g.179414516G>A	GRCh37
NC_000002.10:g.179122762G>A	NCBI36
NG_011618.3:g.286014C>T , LRG_391:g.286014C>T
NG_051363.1:g.31963G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84229C>T (TTN)	ENSP00000343764.6:p.Leu28077Phe
ENST00000342175.11:c.65314C>T (TTN)	ENSP00000340554.6:p.Leu21772Phe
ENST00000359218.10:c.65113C>T (TTN)	ENSP00000352154.5:p.Leu21705Phe
ENST00000342175.10:c.65314C>T (TTN)	ENSP00000340554.6:p.Leu21772Phe
ENST00000342992.10:c.84229C>T (TTN)	ENSP00000343764.6:p.Leu28077Phe
ENST00000359218.9:c.65113C>T (TTN)	ENSP00000352154.5:p.Leu21705Phe
ENST00000460472.6:c.64738C>T (TTN)	ENSP00000434586.1:p.Leu21580Phe
ENST00000589042.5:c.91933C>T (TTN) MANE Select	ENSP00000467141.1:p.Leu30645Phe
ENST00000591111.5:c.87010C>T (TTN)	ENSP00000465570.1:p.Leu29004Phe
ENST00000615779.4:c.87010C>T (TTN)	ENSP00000483597.1:p.Leu29004Phe
NM_001256850.1:c.87010C>T (TTN)	NP_001243779.1:p.Leu29004Phe
NM_001267550.2:c.91933C>T (TTN) MANE Select	NP_001254479.2:p.Leu30645Phe
NM_003319.4:c.64738C>T (TTN)	NP_003310.4:p.Leu21580Phe
NM_133378.4:c.84229C>T (TTN)	NP_596869.4:p.Leu28077Phe
NM_133432.3:c.65113C>T (TTN)	NP_597676.3:p.Leu21705Phe
NM_133437.4:c.65314C>T (TTN)	NP_597681.4:p.Leu21772Phe
NR_038271.1:n.447-21511G>A (TTN-AS1)
NR_038272.1:n.2043+7428G>A (TTN-AS1)
XM_011511729.1:c.91030C>T (TTN)	XP_011510031.1:p.Leu30344Phe
XM_011511730.1:c.64924C>T (TTN)	XP_011510032.1:p.Leu21642Phe
XM_011511731.1:c.64783C>T (TTN)	XP_011510033.1:p.Leu21595Phe
XM_017004819.1:c.90826C>T (TTN)	XP_016860308.1:p.Leu30276Phe
XM_017004820.1:c.86224C>T (TTN)	XP_016860309.1:p.Leu28742Phe
XM_017004821.1:c.86221C>T (TTN)	XP_016860310.1:p.Leu28741Phe
XM_017004822.1:c.83263C>T (TTN)	XP_016860311.1:p.Leu27755Phe
XM_017004823.1:c.64879C>T (TTN)	XP_016860312.1:p.Leu21627Phe
XM_024453094.1:c.86374C>T (TTN)	XP_024308862.1:p.Leu28792Phe
XM_024453095.1:c.86371C>T (TTN)	XP_024308863.1:p.Leu28791Phe
XM_024453096.1:c.85804C>T (TTN)	XP_024308864.1:p.Leu28602Phe
XM_024453097.1:c.83146C>T (TTN)	XP_024308865.1:p.Leu27716Phe
XM_024453098.1:c.83065C>T (TTN)	XP_024308866.1:p.Leu27689Phe
XM_024453099.1:c.64828C>T (TTN)	XP_024308867.1:p.Leu21610Phe
XM_024453100.1:c.54682C>T (TTN)	XP_024308868.1:p.Leu18228Phe