Canonical Allele Identifier: CA343092

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 38440
• ClinVar RCV Id: RCV000031996 ; RCV003234934
• dbSNP Id: rs281864929
• MyVariant Identifiers: chr2:g.179391825G>A (hg19) ; chr2:g.178527098G>A (hg38)
• PubMed: PMID:18948003 ; PMID:20301498

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527098G>A , CM000664.2:g.178527098G>A	GRCh38
NC_000002.11:g.179391825G>A , CM000664.1:g.179391825G>A	GRCh37
NC_000002.10:g.179100071G>A	NCBI36
NG_011618.3:g.308705C>T , LRG_391:g.308705C>T
NG_051363.1:g.9272G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100186C>T (TTN)	ENSP00000343764.6:p.Gln33396Ter
ENST00000342175.11:c.81271C>T (TTN)	ENSP00000340554.6:p.Gln27091Ter
ENST00000359218.10:c.81070C>T (TTN)	ENSP00000352154.5:p.Gln27024Ter
ENST00000342175.10:c.81271C>T (TTN)	ENSP00000340554.6:p.Gln27091Ter
ENST00000342992.10:c.100186C>T (TTN)	ENSP00000343764.6:p.Gln33396Ter
ENST00000359218.9:c.81070C>T (TTN)	ENSP00000352154.5:p.Gln27024Ter
ENST00000460472.6:c.80695C>T (TTN)	ENSP00000434586.1:p.Gln26899Ter
ENST00000589042.5:c.107890C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln35964Ter
ENST00000591111.5:c.102967C>T (TTN)	ENSP00000465570.1:p.Gln34323Ter
ENST00000615779.4:c.102967C>T (TTN)	ENSP00000483597.1:p.Gln34323Ter
NM_001256850.1:c.102967C>T (TTN)	NP_001243779.1:p.Gln34323Ter
NM_001267550.2:c.107890C>T (TTN) MANE Select	NP_001254479.2:p.Gln35964Ter
NM_003319.4:c.80695C>T (TTN)	NP_003310.4:p.Gln26899Ter
NM_133378.4:c.100186C>T (TTN)	NP_596869.4:p.Gln33396Ter
NM_133432.3:c.81070C>T (TTN)	NP_597676.3:p.Gln27024Ter
NM_133437.4:c.81271C>T (TTN)	NP_597681.4:p.Gln27091Ter
NR_038271.1:n.446+3462G>A (TTN-AS1)
NR_038272.1:n.219+3462G>A (TTN-AS1)
XM_011511729.1:c.106987C>T (TTN)	XP_011510031.1:p.Gln35663Ter
XM_011511730.1:c.80881C>T (TTN)	XP_011510032.1:p.Gln26961Ter
XM_011511731.1:c.80740C>T (TTN)	XP_011510033.1:p.Gln26914Ter
XM_017004819.1:c.106783C>T (TTN)	XP_016860308.1:p.Gln35595Ter
XM_017004820.1:c.102181C>T (TTN)	XP_016860309.1:p.Gln34061Ter
XM_017004821.1:c.102178C>T (TTN)	XP_016860310.1:p.Gln34060Ter
XM_017004822.1:c.99220C>T (TTN)	XP_016860311.1:p.Gln33074Ter
XM_017004823.1:c.80836C>T (TTN)	XP_016860312.1:p.Gln26946Ter
XM_024453094.1:c.102331C>T (TTN)	XP_024308862.1:p.Gln34111Ter
XM_024453095.1:c.102328C>T (TTN)	XP_024308863.1:p.Gln34110Ter
XM_024453096.1:c.101761C>T (TTN)	XP_024308864.1:p.Gln33921Ter
XM_024453097.1:c.99103C>T (TTN)	XP_024308865.1:p.Gln33035Ter
XM_024453098.1:c.99022C>T (TTN)	XP_024308866.1:p.Gln33008Ter
XM_024453099.1:c.80785C>T (TTN)	XP_024308867.1:p.Gln26929Ter
XM_024453100.1:c.70639C>T (TTN)	XP_024308868.1:p.Gln23547Ter