Canonical Allele Identifier: CA349455657

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178544272-G-A
• COSMIC: COSM6192486 ; COSM6192487 ; COSM6192488 ; COSM6192489
• MyVariant Identifiers: chr2:g.179408999G>A (hg19) ; chr2:g.178544272G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544272G>A , CM000664.2:g.178544272G>A	GRCh38
NC_000002.11:g.179408999G>A , CM000664.1:g.179408999G>A	GRCh37
NC_000002.10:g.179117245G>A	NCBI36
NG_011618.3:g.291531C>T , LRG_391:g.291531C>T
NG_051363.1:g.26446G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88253C>T (TTN)	ENSP00000343764.6:p.Ala29418Val
ENST00000342175.11:c.69338C>T (TTN)	ENSP00000340554.6:p.Ala23113Val
ENST00000359218.10:c.69137C>T (TTN)	ENSP00000352154.5:p.Ala23046Val
ENST00000342175.10:c.69338C>T (TTN)	ENSP00000340554.6:p.Ala23113Val
ENST00000342992.10:c.88253C>T (TTN)	ENSP00000343764.6:p.Ala29418Val
ENST00000359218.9:c.69137C>T (TTN)	ENSP00000352154.5:p.Ala23046Val
ENST00000460472.6:c.68762C>T (TTN)	ENSP00000434586.1:p.Ala22921Val
ENST00000589042.5:c.95957C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala31986Val
ENST00000591111.5:c.91034C>T (TTN)	ENSP00000465570.1:p.Ala30345Val
ENST00000615779.4:c.91034C>T (TTN)	ENSP00000483597.1:p.Ala30345Val
NM_001256850.1:c.91034C>T (TTN)	NP_001243779.1:p.Ala30345Val
NM_001267550.2:c.95957C>T (TTN) MANE Select	NP_001254479.2:p.Ala31986Val
NM_003319.4:c.68762C>T (TTN)	NP_003310.4:p.Ala22921Val
NM_133378.4:c.88253C>T (TTN)	NP_596869.4:p.Ala29418Val
NM_133432.3:c.69137C>T (TTN)	NP_597676.3:p.Ala23046Val
NM_133437.4:c.69338C>T (TTN)	NP_597681.4:p.Ala23113Val
NR_038271.1:n.446+20636G>A (TTN-AS1)
NR_038272.1:n.2043+1911G>A (TTN-AS1)
XM_011511729.1:c.95054C>T (TTN)	XP_011510031.1:p.Ala31685Val
XM_011511730.1:c.68948C>T (TTN)	XP_011510032.1:p.Ala22983Val
XM_011511731.1:c.68807C>T (TTN)	XP_011510033.1:p.Ala22936Val
XM_017004819.1:c.94850C>T (TTN)	XP_016860308.1:p.Ala31617Val
XM_017004820.1:c.90248C>T (TTN)	XP_016860309.1:p.Ala30083Val
XM_017004821.1:c.90245C>T (TTN)	XP_016860310.1:p.Ala30082Val
XM_017004822.1:c.87287C>T (TTN)	XP_016860311.1:p.Ala29096Val
XM_017004823.1:c.68903C>T (TTN)	XP_016860312.1:p.Ala22968Val
XM_024453094.1:c.90398C>T (TTN)	XP_024308862.1:p.Ala30133Val
XM_024453095.1:c.90395C>T (TTN)	XP_024308863.1:p.Ala30132Val
XM_024453096.1:c.89828C>T (TTN)	XP_024308864.1:p.Ala29943Val
XM_024453097.1:c.87170C>T (TTN)	XP_024308865.1:p.Ala29057Val
XM_024453098.1:c.87089C>T (TTN)	XP_024308866.1:p.Ala29030Val
XM_024453099.1:c.68852C>T (TTN)	XP_024308867.1:p.Ala22951Val
XM_024453100.1:c.58706C>T (TTN)	XP_024308868.1:p.Ala19569Val