Canonical Allele Identifier: CA349407253

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs764231632
• gnomAD v4: 2-178530616-C-A
• MyVariant Identifiers: chr2:g.179395343C>A (hg19) ; chr2:g.178530616C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530616C>A , CM000664.2:g.178530616C>A	GRCh38
NC_000002.11:g.179395343C>A , CM000664.1:g.179395343C>A	GRCh37
NC_000002.10:g.179103589C>A	NCBI36
NG_011618.3:g.305187G>T , LRG_391:g.305187G>T
NG_051363.1:g.12790C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98295G>T (TTN)	ENSP00000343764.6:p.Gln32765His
ENST00000342175.11:c.79380G>T (TTN)	ENSP00000340554.6:p.Gln26460His
ENST00000359218.10:c.79179G>T (TTN)	ENSP00000352154.5:p.Gln26393His
ENST00000342175.10:c.79380G>T (TTN)	ENSP00000340554.6:p.Gln26460His
ENST00000342992.10:c.98295G>T (TTN)	ENSP00000343764.6:p.Gln32765His
ENST00000359218.9:c.79179G>T (TTN)	ENSP00000352154.5:p.Gln26393His
ENST00000460472.6:c.78804G>T (TTN)	ENSP00000434586.1:p.Gln26268His
ENST00000589042.5:c.105999G>T (TTN) MANE Select	ENSP00000467141.1:p.Gln35333His
ENST00000591111.5:c.101076G>T (TTN)	ENSP00000465570.1:p.Gln33692His
ENST00000615779.4:c.101076G>T (TTN)	ENSP00000483597.1:p.Gln33692His
NM_001256850.1:c.101076G>T (TTN)	NP_001243779.1:p.Gln33692His
NM_001267550.2:c.105999G>T (TTN) MANE Select	NP_001254479.2:p.Gln35333His
NM_003319.4:c.78804G>T (TTN)	NP_003310.4:p.Gln26268His
NM_133378.4:c.98295G>T (TTN)	NP_596869.4:p.Gln32765His
NM_133432.3:c.79179G>T (TTN)	NP_597676.3:p.Gln26393His
NM_133437.4:c.79380G>T (TTN)	NP_597681.4:p.Gln26460His
NR_038271.1:n.446+6980C>A (TTN-AS1)
NR_038272.1:n.220-5116C>A (TTN-AS1)
XM_011511729.1:c.105096G>T (TTN)	XP_011510031.1:p.Gln35032His
XM_011511730.1:c.78990G>T (TTN)	XP_011510032.1:p.Gln26330His
XM_011511731.1:c.78849G>T (TTN)	XP_011510033.1:p.Gln26283His
XM_017004819.1:c.104892G>T (TTN)	XP_016860308.1:p.Gln34964His
XM_017004820.1:c.100290G>T (TTN)	XP_016860309.1:p.Gln33430His
XM_017004821.1:c.100287G>T (TTN)	XP_016860310.1:p.Gln33429His
XM_017004822.1:c.97329G>T (TTN)	XP_016860311.1:p.Gln32443His
XM_017004823.1:c.78945G>T (TTN)	XP_016860312.1:p.Gln26315His
XM_024453094.1:c.100440G>T (TTN)	XP_024308862.1:p.Gln33480His
XM_024453095.1:c.100437G>T (TTN)	XP_024308863.1:p.Gln33479His
XM_024453096.1:c.99870G>T (TTN)	XP_024308864.1:p.Gln33290His
XM_024453097.1:c.97212G>T (TTN)	XP_024308865.1:p.Gln32404His
XM_024453098.1:c.97131G>T (TTN)	XP_024308866.1:p.Gln32377His
XM_024453099.1:c.78894G>T (TTN)	XP_024308867.1:p.Gln26298His
XM_024453100.1:c.68748G>T (TTN)	XP_024308868.1:p.Gln22916His