Canonical Allele Identifier: CA273662

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 179921
• ClinVar RCV Id: RCV000156722 ; RCV002515035 ; RCV003162647
• dbSNP Id: rs727505224
• gnomAD v4: 2-178553061-G-A
• COSMIC: COSM3971764 ; COSM3971765 ; COSM3971766 ; COSM3971767
• MyVariant Identifiers: chr2:g.179417788G>A (hg19) ; chr2:g.178553061G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178553061G>A , CM000664.2:g.178553061G>A	GRCh38
NC_000002.11:g.179417788G>A , CM000664.1:g.179417788G>A	GRCh37
NC_000002.10:g.179126034G>A	NCBI36
NG_011618.3:g.282742C>T , LRG_391:g.282742C>T
NG_051363.1:g.35235G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.82135C>T (TTN)	ENSP00000343764.6:p.Arg27379Ter
ENST00000342175.11:c.63220C>T (TTN)	ENSP00000340554.6:p.Arg21074Ter
ENST00000359218.10:c.63019C>T (TTN)	ENSP00000352154.5:p.Arg21007Ter
ENST00000342175.10:c.63220C>T (TTN)	ENSP00000340554.6:p.Arg21074Ter
ENST00000342992.10:c.82135C>T (TTN)	ENSP00000343764.6:p.Arg27379Ter
ENST00000359218.9:c.63019C>T (TTN)	ENSP00000352154.5:p.Arg21007Ter
ENST00000460472.6:c.62644C>T (TTN)	ENSP00000434586.1:p.Arg20882Ter
ENST00000589042.5:c.89839C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg29947Ter
ENST00000591111.5:c.84916C>T (TTN)	ENSP00000465570.1:p.Arg28306Ter
ENST00000615779.4:c.84916C>T (TTN)	ENSP00000483597.1:p.Arg28306Ter
NM_001256850.1:c.84916C>T (TTN)	NP_001243779.1:p.Arg28306Ter
NM_001267550.2:c.89839C>T (TTN) MANE Select	NP_001254479.2:p.Arg29947Ter
NM_003319.4:c.62644C>T (TTN)	NP_003310.4:p.Arg20882Ter
NM_133378.4:c.82135C>T (TTN)	NP_596869.4:p.Arg27379Ter
NM_133432.3:c.63019C>T (TTN)	NP_597676.3:p.Arg21007Ter
NM_133437.4:c.63220C>T (TTN)	NP_597681.4:p.Arg21074Ter
NR_038271.1:n.447-18239G>A (TTN-AS1)
NR_038272.1:n.2043+10700G>A (TTN-AS1)
XM_011511729.1:c.88936C>T (TTN)	XP_011510031.1:p.Arg29646Ter
XM_011511730.1:c.62830C>T (TTN)	XP_011510032.1:p.Arg20944Ter
XM_011511731.1:c.62689C>T (TTN)	XP_011510033.1:p.Arg20897Ter
XM_017004819.1:c.88732C>T (TTN)	XP_016860308.1:p.Arg29578Ter
XM_017004820.1:c.84130C>T (TTN)	XP_016860309.1:p.Arg28044Ter
XM_017004821.1:c.84127C>T (TTN)	XP_016860310.1:p.Arg28043Ter
XM_017004822.1:c.81169C>T (TTN)	XP_016860311.1:p.Arg27057Ter
XM_017004823.1:c.62785C>T (TTN)	XP_016860312.1:p.Arg20929Ter
XM_024453094.1:c.84280C>T (TTN)	XP_024308862.1:p.Arg28094Ter
XM_024453095.1:c.84277C>T (TTN)	XP_024308863.1:p.Arg28093Ter
XM_024453096.1:c.83710C>T (TTN)	XP_024308864.1:p.Arg27904Ter
XM_024453097.1:c.81052C>T (TTN)	XP_024308865.1:p.Arg27018Ter
XM_024453098.1:c.80971C>T (TTN)	XP_024308866.1:p.Arg26991Ter
XM_024453099.1:c.62734C>T (TTN)	XP_024308867.1:p.Arg20912Ter
XM_024453100.1:c.52588C>T (TTN)	XP_024308868.1:p.Arg17530Ter