Canonical Allele Identifier: CA349499329

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 534993
• ClinVar RCV Id: RCV000642740 ; RCV002360580
• dbSNP Id: rs1553536305
• gnomAD v4: 2-178550169-G-A
• MyVariant Identifiers: chr2:g.179414896G>A (hg19) ; chr2:g.178550169G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178550169G>A , CM000664.2:g.178550169G>A	GRCh38
NC_000002.11:g.179414896G>A , CM000664.1:g.179414896G>A	GRCh37
NC_000002.10:g.179123142G>A	NCBI36
NG_011618.3:g.285634C>T , LRG_391:g.285634C>T
NG_051363.1:g.32343G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83965C>T (TTN)	ENSP00000343764.6:p.Arg27989Ter
ENST00000342175.11:c.65050C>T (TTN)	ENSP00000340554.6:p.Arg21684Ter
ENST00000359218.10:c.64849C>T (TTN)	ENSP00000352154.5:p.Arg21617Ter
ENST00000342175.10:c.65050C>T (TTN)	ENSP00000340554.6:p.Arg21684Ter
ENST00000342992.10:c.83965C>T (TTN)	ENSP00000343764.6:p.Arg27989Ter
ENST00000359218.9:c.64849C>T (TTN)	ENSP00000352154.5:p.Arg21617Ter
ENST00000460472.6:c.64474C>T (TTN)	ENSP00000434586.1:p.Arg21492Ter
ENST00000589042.5:c.91669C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg30557Ter
ENST00000591111.5:c.86746C>T (TTN)	ENSP00000465570.1:p.Arg28916Ter
ENST00000615779.4:c.86746C>T (TTN)	ENSP00000483597.1:p.Arg28916Ter
NM_001256850.1:c.86746C>T (TTN)	NP_001243779.1:p.Arg28916Ter
NM_001267550.2:c.91669C>T (TTN) MANE Select	NP_001254479.2:p.Arg30557Ter
NM_003319.4:c.64474C>T (TTN)	NP_003310.4:p.Arg21492Ter
NM_133378.4:c.83965C>T (TTN)	NP_596869.4:p.Arg27989Ter
NM_133432.3:c.64849C>T (TTN)	NP_597676.3:p.Arg21617Ter
NM_133437.4:c.65050C>T (TTN)	NP_597681.4:p.Arg21684Ter
NR_038271.1:n.447-21131G>A (TTN-AS1)
NR_038272.1:n.2043+7808G>A (TTN-AS1)
XM_011511729.1:c.90766C>T (TTN)	XP_011510031.1:p.Arg30256Ter
XM_011511730.1:c.64660C>T (TTN)	XP_011510032.1:p.Arg21554Ter
XM_011511731.1:c.64519C>T (TTN)	XP_011510033.1:p.Arg21507Ter
XM_017004819.1:c.90562C>T (TTN)	XP_016860308.1:p.Arg30188Ter
XM_017004820.1:c.85960C>T (TTN)	XP_016860309.1:p.Arg28654Ter
XM_017004821.1:c.85957C>T (TTN)	XP_016860310.1:p.Arg28653Ter
XM_017004822.1:c.82999C>T (TTN)	XP_016860311.1:p.Arg27667Ter
XM_017004823.1:c.64615C>T (TTN)	XP_016860312.1:p.Arg21539Ter
XM_024453094.1:c.86110C>T (TTN)	XP_024308862.1:p.Arg28704Ter
XM_024453095.1:c.86107C>T (TTN)	XP_024308863.1:p.Arg28703Ter
XM_024453096.1:c.85540C>T (TTN)	XP_024308864.1:p.Arg28514Ter
XM_024453097.1:c.82882C>T (TTN)	XP_024308865.1:p.Arg27628Ter
XM_024453098.1:c.82801C>T (TTN)	XP_024308866.1:p.Arg27601Ter
XM_024453099.1:c.64564C>T (TTN)	XP_024308867.1:p.Arg21522Ter
XM_024453100.1:c.54418C>T (TTN)	XP_024308868.1:p.Arg18140Ter