Canonical Allele Identifier: CA1986378

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 510946
• ClinVar RCV Id: RCV003317298
• dbSNP Id: rs371807358
• ExAC: 2:179404361 G / A
• gnomAD v2: 2-179404361-G-A
• gnomAD v3: 2-178539634-G-A
• gnomAD v4: 2-178539634-G-A
• COSMIC: COSM1613784 ; COSM1613785 ; COSM1613786 ; COSM1613787
• MyVariant Identifiers: chr2:g.179404361G>A (hg19) ; chr2:g.178539634G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178539634G>A , CM000664.2:g.178539634G>A	GRCh38
NC_000002.11:g.179404361G>A , CM000664.1:g.179404361G>A	GRCh37
NC_000002.10:g.179112607G>A	NCBI36
NG_011618.3:g.296169C>T , LRG_391:g.296169C>T
NG_051363.1:g.21808G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.90727C>T (TTN)	ENSP00000343764.6:p.Arg30243Cys
ENST00000342175.11:c.71812C>T (TTN)	ENSP00000340554.6:p.Arg23938Cys
ENST00000359218.10:c.71611C>T (TTN)	ENSP00000352154.5:p.Arg23871Cys
ENST00000342175.10:c.71812C>T (TTN)	ENSP00000340554.6:p.Arg23938Cys
ENST00000342992.10:c.90727C>T (TTN)	ENSP00000343764.6:p.Arg30243Cys
ENST00000359218.9:c.71611C>T (TTN)	ENSP00000352154.5:p.Arg23871Cys
ENST00000460472.6:c.71236C>T (TTN)	ENSP00000434586.1:p.Arg23746Cys
ENST00000589042.5:c.98431C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg32811Cys
ENST00000591111.5:c.93508C>T (TTN)	ENSP00000465570.1:p.Arg31170Cys
ENST00000615779.4:c.93508C>T (TTN)	ENSP00000483597.1:p.Arg31170Cys
NM_001256850.1:c.93508C>T (TTN)	NP_001243779.1:p.Arg31170Cys
NM_001267550.2:c.98431C>T (TTN) MANE Select	NP_001254479.2:p.Arg32811Cys
NM_003319.4:c.71236C>T (TTN)	NP_003310.4:p.Arg23746Cys
NM_133378.4:c.90727C>T (TTN)	NP_596869.4:p.Arg30243Cys
NM_133432.3:c.71611C>T (TTN)	NP_597676.3:p.Arg23871Cys
NM_133437.4:c.71812C>T (TTN)	NP_597681.4:p.Arg23938Cys
NR_038271.1:n.446+15998G>A (TTN-AS1)
NR_038272.1:n.1584G>A (TTN-AS1)
XM_011511729.1:c.97528C>T (TTN)	XP_011510031.1:p.Arg32510Cys
XM_011511730.1:c.71422C>T (TTN)	XP_011510032.1:p.Arg23808Cys
XM_011511731.1:c.71281C>T (TTN)	XP_011510033.1:p.Arg23761Cys
XM_017004819.1:c.97324C>T (TTN)	XP_016860308.1:p.Arg32442Cys
XM_017004820.1:c.92722C>T (TTN)	XP_016860309.1:p.Arg30908Cys
XM_017004821.1:c.92719C>T (TTN)	XP_016860310.1:p.Arg30907Cys
XM_017004822.1:c.89761C>T (TTN)	XP_016860311.1:p.Arg29921Cys
XM_017004823.1:c.71377C>T (TTN)	XP_016860312.1:p.Arg23793Cys
XM_024453094.1:c.92872C>T (TTN)	XP_024308862.1:p.Arg30958Cys
XM_024453095.1:c.92869C>T (TTN)	XP_024308863.1:p.Arg30957Cys
XM_024453096.1:c.92302C>T (TTN)	XP_024308864.1:p.Arg30768Cys
XM_024453097.1:c.89644C>T (TTN)	XP_024308865.1:p.Arg29882Cys
XM_024453098.1:c.89563C>T (TTN)	XP_024308866.1:p.Arg29855Cys
XM_024453099.1:c.71326C>T (TTN)	XP_024308867.1:p.Arg23776Cys
XM_024453100.1:c.61180C>T (TTN)	XP_024308868.1:p.Arg20394Cys