Canonical Allele Identifier: CA349648303

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179438705C>G (hg19) ; chr2:g.178573978C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573978C>G , CM000664.2:g.178573978C>G	GRCh38
NC_000002.11:g.179438705C>G , CM000664.1:g.179438705C>G	GRCh37
NC_000002.10:g.179146951C>G	NCBI36
NG_011618.3:g.261825G>C , LRG_391:g.261825G>C
NG_051363.1:g.56152C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.64450G>C (TTN)	ENSP00000343764.6:p.Asp21484His
ENST00000342175.11:c.45535G>C (TTN)	ENSP00000340554.6:p.Asp15179His
ENST00000359218.10:c.45334G>C (TTN)	ENSP00000352154.5:p.Asp15112His
ENST00000342175.10:c.45535G>C (TTN)	ENSP00000340554.6:p.Asp15179His
ENST00000342992.10:c.64450G>C (TTN)	ENSP00000343764.6:p.Asp21484His
ENST00000359218.9:c.45334G>C (TTN)	ENSP00000352154.5:p.Asp15112His
ENST00000460472.6:c.44959G>C (TTN)	ENSP00000434586.1:p.Asp14987His
ENST00000589042.5:c.72154G>C (TTN) MANE Select	ENSP00000467141.1:p.Asp24052His
ENST00000591111.5:c.67231G>C (TTN)	ENSP00000465570.1:p.Asp22411His
ENST00000615779.4:c.67231G>C (TTN)	ENSP00000483597.1:p.Asp22411His
NM_001256850.1:c.67231G>C (TTN)	NP_001243779.1:p.Asp22411His
NM_001267550.2:c.72154G>C (TTN) MANE Select	NP_001254479.2:p.Asp24052His
NM_003319.4:c.44959G>C (TTN)	NP_003310.4:p.Asp14987His
NM_133378.4:c.64450G>C (TTN)	NP_596869.4:p.Asp21484His
NM_133432.3:c.45334G>C (TTN)	NP_597676.3:p.Asp15112His
NM_133437.4:c.45535G>C (TTN)	NP_597681.4:p.Asp15179His
NR_038271.1:n.596+2529C>G (TTN-AS1)
NR_038272.1:n.2044-8594C>G (TTN-AS1)
XM_011511729.1:c.71251G>C (TTN)	XP_011510031.1:p.Asp23751His
XM_011511730.1:c.45145G>C (TTN)	XP_011510032.1:p.Asp15049His
XM_011511731.1:c.45004G>C (TTN)	XP_011510033.1:p.Asp15002His
XM_017004819.1:c.71047G>C (TTN)	XP_016860308.1:p.Asp23683His
XM_017004820.1:c.66445G>C (TTN)	XP_016860309.1:p.Asp22149His
XM_017004821.1:c.66442G>C (TTN)	XP_016860310.1:p.Asp22148His
XM_017004822.1:c.63484G>C (TTN)	XP_016860311.1:p.Asp21162His
XM_017004823.1:c.45100G>C (TTN)	XP_016860312.1:p.Asp15034His
XM_024453094.1:c.66595G>C (TTN)	XP_024308862.1:p.Asp22199His
XM_024453095.1:c.66592G>C (TTN)	XP_024308863.1:p.Asp22198His
XM_024453096.1:c.66025G>C (TTN)	XP_024308864.1:p.Asp22009His
XM_024453097.1:c.63367G>C (TTN)	XP_024308865.1:p.Asp21123His
XM_024453098.1:c.63286G>C (TTN)	XP_024308866.1:p.Asp21096His
XM_024453099.1:c.45049G>C (TTN)	XP_024308867.1:p.Asp15017His
XM_024453100.1:c.34903G>C (TTN)	XP_024308868.1:p.Asp11635His