Canonical Allele Identifier: CA309318

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202407
• ClinVar RCV Id: RCV000184263 ; RCV001852387 ; RCV002336474
• dbSNP Id: rs794729287
• MyVariant Identifiers: chr2:g.179433422G>A (hg19) ; chr2:g.178568695G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568695G>A , CM000664.2:g.178568695G>A	GRCh38
NC_000002.11:g.179433422G>A , CM000664.1:g.179433422G>A	GRCh37
NC_000002.10:g.179141668G>A	NCBI36
NG_011618.3:g.267108C>T , LRG_391:g.267108C>T
NG_051363.1:g.50869G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69733C>T (TTN)	ENSP00000343764.6:p.Gln23245Ter
ENST00000342175.11:c.50818C>T (TTN)	ENSP00000340554.6:p.Gln16940Ter
ENST00000359218.10:c.50617C>T (TTN)	ENSP00000352154.5:p.Gln16873Ter
ENST00000342175.10:c.50818C>T (TTN)	ENSP00000340554.6:p.Gln16940Ter
ENST00000342992.10:c.69733C>T (TTN)	ENSP00000343764.6:p.Gln23245Ter
ENST00000359218.9:c.50617C>T (TTN)	ENSP00000352154.5:p.Gln16873Ter
ENST00000460472.6:c.50242C>T (TTN)	ENSP00000434586.1:p.Gln16748Ter
ENST00000589042.5:c.77437C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln25813Ter
ENST00000591111.5:c.72514C>T (TTN)	ENSP00000465570.1:p.Gln24172Ter
ENST00000615779.4:c.72514C>T (TTN)	ENSP00000483597.1:p.Gln24172Ter
NM_001256850.1:c.72514C>T (TTN)	NP_001243779.1:p.Gln24172Ter
NM_001267550.2:c.77437C>T (TTN) MANE Select	NP_001254479.2:p.Gln25813Ter
NM_003319.4:c.50242C>T (TTN)	NP_003310.4:p.Gln16748Ter
NM_133378.4:c.69733C>T (TTN)	NP_596869.4:p.Gln23245Ter
NM_133432.3:c.50617C>T (TTN)	NP_597676.3:p.Gln16873Ter
NM_133437.4:c.50818C>T (TTN)	NP_597681.4:p.Gln16940Ter
NR_038271.1:n.447-2605G>A (TTN-AS1)
NR_038272.1:n.2044-13877G>A (TTN-AS1)
XM_011511729.1:c.76534C>T (TTN)	XP_011510031.1:p.Gln25512Ter
XM_011511730.1:c.50428C>T (TTN)	XP_011510032.1:p.Gln16810Ter
XM_011511731.1:c.50287C>T (TTN)	XP_011510033.1:p.Gln16763Ter
XM_017004819.1:c.76330C>T (TTN)	XP_016860308.1:p.Gln25444Ter
XM_017004820.1:c.71728C>T (TTN)	XP_016860309.1:p.Gln23910Ter
XM_017004821.1:c.71725C>T (TTN)	XP_016860310.1:p.Gln23909Ter
XM_017004822.1:c.68767C>T (TTN)	XP_016860311.1:p.Gln22923Ter
XM_017004823.1:c.50383C>T (TTN)	XP_016860312.1:p.Gln16795Ter
XM_024453094.1:c.71878C>T (TTN)	XP_024308862.1:p.Gln23960Ter
XM_024453095.1:c.71875C>T (TTN)	XP_024308863.1:p.Gln23959Ter
XM_024453096.1:c.71308C>T (TTN)	XP_024308864.1:p.Gln23770Ter
XM_024453097.1:c.68650C>T (TTN)	XP_024308865.1:p.Gln22884Ter
XM_024453098.1:c.68569C>T (TTN)	XP_024308866.1:p.Gln22857Ter
XM_024453099.1:c.50332C>T (TTN)	XP_024308867.1:p.Gln16778Ter
XM_024453100.1:c.40186C>T (TTN)	XP_024308868.1:p.Gln13396Ter