Canonical Allele Identifier: CA349419600

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2105994
• ClinVar RCV Id: RCV003023730
• MyVariant Identifiers: chr2:g.179399576C>A (hg19) ; chr2:g.178534849C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178534849C>A , CM000664.2:g.178534849C>A	GRCh38
NC_000002.11:g.179399576C>A , CM000664.1:g.179399576C>A	GRCh37
NC_000002.10:g.179107822C>A	NCBI36
NG_011618.3:g.300954G>T , LRG_391:g.300954G>T
NG_051363.1:g.17023C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.94062G>T (TTN)	ENSP00000343764.6:p.Gln31354His
ENST00000342175.11:c.75147G>T (TTN)	ENSP00000340554.6:p.Gln25049His
ENST00000359218.10:c.74946G>T (TTN)	ENSP00000352154.5:p.Gln24982His
ENST00000342175.10:c.75147G>T (TTN)	ENSP00000340554.6:p.Gln25049His
ENST00000342992.10:c.94062G>T (TTN)	ENSP00000343764.6:p.Gln31354His
ENST00000359218.9:c.74946G>T (TTN)	ENSP00000352154.5:p.Gln24982His
ENST00000460472.6:c.74571G>T (TTN)	ENSP00000434586.1:p.Gln24857His
ENST00000589042.5:c.101766G>T (TTN) MANE Select	ENSP00000467141.1:p.Gln33922His
ENST00000591111.5:c.96843G>T (TTN)	ENSP00000465570.1:p.Gln32281His
ENST00000615779.4:c.96843G>T (TTN)	ENSP00000483597.1:p.Gln32281His
NM_001256850.1:c.96843G>T (TTN)	NP_001243779.1:p.Gln32281His
NM_001267550.2:c.101766G>T (TTN) MANE Select	NP_001254479.2:p.Gln33922His
NM_003319.4:c.74571G>T (TTN)	NP_003310.4:p.Gln24857His
NM_133378.4:c.94062G>T (TTN)	NP_596869.4:p.Gln31354His
NM_133432.3:c.74946G>T (TTN)	NP_597676.3:p.Gln24982His
NM_133437.4:c.75147G>T (TTN)	NP_597681.4:p.Gln25049His
NR_038271.1:n.446+11213C>A (TTN-AS1)
NR_038272.1:n.220-883C>A (TTN-AS1)
XM_011511729.1:c.100863G>T (TTN)	XP_011510031.1:p.Gln33621His
XM_011511730.1:c.74757G>T (TTN)	XP_011510032.1:p.Gln24919His
XM_011511731.1:c.74616G>T (TTN)	XP_011510033.1:p.Gln24872His
XM_017004819.1:c.100659G>T (TTN)	XP_016860308.1:p.Gln33553His
XM_017004820.1:c.96057G>T (TTN)	XP_016860309.1:p.Gln32019His
XM_017004821.1:c.96054G>T (TTN)	XP_016860310.1:p.Gln32018His
XM_017004822.1:c.93096G>T (TTN)	XP_016860311.1:p.Gln31032His
XM_017004823.1:c.74712G>T (TTN)	XP_016860312.1:p.Gln24904His
XM_024453094.1:c.96207G>T (TTN)	XP_024308862.1:p.Gln32069His
XM_024453095.1:c.96204G>T (TTN)	XP_024308863.1:p.Gln32068His
XM_024453096.1:c.95637G>T (TTN)	XP_024308864.1:p.Gln31879His
XM_024453097.1:c.92979G>T (TTN)	XP_024308865.1:p.Gln30993His
XM_024453098.1:c.92898G>T (TTN)	XP_024308866.1:p.Gln30966His
XM_024453099.1:c.74661G>T (TTN)	XP_024308867.1:p.Gln24887His
XM_024453100.1:c.64515G>T (TTN)	XP_024308868.1:p.Gln21505His