Canonical Allele Identifier: CA349406966

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1332778007
• gnomAD v2: 2-179395211-T-A
• MyVariant Identifiers: chr2:g.179395211T>A (hg19) ; chr2:g.178530484T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530484T>A , CM000664.2:g.178530484T>A	GRCh38
NC_000002.11:g.179395211T>A , CM000664.1:g.179395211T>A	GRCh37
NC_000002.10:g.179103457T>A	NCBI36
NG_011618.3:g.305319A>T , LRG_391:g.305319A>T
NG_051363.1:g.12658T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98427A>T (TTN)	ENSP00000343764.6:p.Gln32809His
ENST00000342175.11:c.79512A>T (TTN)	ENSP00000340554.6:p.Gln26504His
ENST00000359218.10:c.79311A>T (TTN)	ENSP00000352154.5:p.Gln26437His
ENST00000342175.10:c.79512A>T (TTN)	ENSP00000340554.6:p.Gln26504His
ENST00000342992.10:c.98427A>T (TTN)	ENSP00000343764.6:p.Gln32809His
ENST00000359218.9:c.79311A>T (TTN)	ENSP00000352154.5:p.Gln26437His
ENST00000460472.6:c.78936A>T (TTN)	ENSP00000434586.1:p.Gln26312His
ENST00000589042.5:c.106131A>T (TTN) MANE Select	ENSP00000467141.1:p.Gln35377His
ENST00000591111.5:c.101208A>T (TTN)	ENSP00000465570.1:p.Gln33736His
ENST00000615779.4:c.101208A>T (TTN)	ENSP00000483597.1:p.Gln33736His
NM_001256850.1:c.101208A>T (TTN)	NP_001243779.1:p.Gln33736His
NM_001267550.2:c.106131A>T (TTN) MANE Select	NP_001254479.2:p.Gln35377His
NM_003319.4:c.78936A>T (TTN)	NP_003310.4:p.Gln26312His
NM_133378.4:c.98427A>T (TTN)	NP_596869.4:p.Gln32809His
NM_133432.3:c.79311A>T (TTN)	NP_597676.3:p.Gln26437His
NM_133437.4:c.79512A>T (TTN)	NP_597681.4:p.Gln26504His
NR_038271.1:n.446+6848T>A (TTN-AS1)
NR_038272.1:n.220-5248T>A (TTN-AS1)
XM_011511729.1:c.105228A>T (TTN)	XP_011510031.1:p.Gln35076His
XM_011511730.1:c.79122A>T (TTN)	XP_011510032.1:p.Gln26374His
XM_011511731.1:c.78981A>T (TTN)	XP_011510033.1:p.Gln26327His
XM_017004819.1:c.105024A>T (TTN)	XP_016860308.1:p.Gln35008His
XM_017004820.1:c.100422A>T (TTN)	XP_016860309.1:p.Gln33474His
XM_017004821.1:c.100419A>T (TTN)	XP_016860310.1:p.Gln33473His
XM_017004822.1:c.97461A>T (TTN)	XP_016860311.1:p.Gln32487His
XM_017004823.1:c.79077A>T (TTN)	XP_016860312.1:p.Gln26359His
XM_024453094.1:c.100572A>T (TTN)	XP_024308862.1:p.Gln33524His
XM_024453095.1:c.100569A>T (TTN)	XP_024308863.1:p.Gln33523His
XM_024453096.1:c.100002A>T (TTN)	XP_024308864.1:p.Gln33334His
XM_024453097.1:c.97344A>T (TTN)	XP_024308865.1:p.Gln32448His
XM_024453098.1:c.97263A>T (TTN)	XP_024308866.1:p.Gln32421His
XM_024453099.1:c.79026A>T (TTN)	XP_024308867.1:p.Gln26342His
XM_024453100.1:c.68880A>T (TTN)	XP_024308868.1:p.Gln22960His