Canonical Allele Identifier: CA349630444

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435964T>A (hg19) ; chr2:g.178571237T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178571237T>A , CM000664.2:g.178571237T>A	GRCh38
NC_000002.11:g.179435964T>A , CM000664.1:g.179435964T>A	GRCh37
NC_000002.10:g.179144210T>A	NCBI36
NG_011618.3:g.264566A>T , LRG_391:g.264566A>T
NG_051363.1:g.53411T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67191A>T (TTN)	ENSP00000343764.6:p.Gln22397His
ENST00000342175.11:c.48276A>T (TTN)	ENSP00000340554.6:p.Gln16092His
ENST00000359218.10:c.48075A>T (TTN)	ENSP00000352154.5:p.Gln16025His
ENST00000342175.10:c.48276A>T (TTN)	ENSP00000340554.6:p.Gln16092His
ENST00000342992.10:c.67191A>T (TTN)	ENSP00000343764.6:p.Gln22397His
ENST00000359218.9:c.48075A>T (TTN)	ENSP00000352154.5:p.Gln16025His
ENST00000460472.6:c.47700A>T (TTN)	ENSP00000434586.1:p.Gln15900His
ENST00000589042.5:c.74895A>T (TTN) MANE Select	ENSP00000467141.1:p.Gln24965His
ENST00000591111.5:c.69972A>T (TTN)	ENSP00000465570.1:p.Gln23324His
ENST00000615779.4:c.69972A>T (TTN)	ENSP00000483597.1:p.Gln23324His
NM_001256850.1:c.69972A>T (TTN)	NP_001243779.1:p.Gln23324His
NM_001267550.2:c.74895A>T (TTN) MANE Select	NP_001254479.2:p.Gln24965His
NM_003319.4:c.47700A>T (TTN)	NP_003310.4:p.Gln15900His
NM_133378.4:c.67191A>T (TTN)	NP_596869.4:p.Gln22397His
NM_133432.3:c.48075A>T (TTN)	NP_597676.3:p.Gln16025His
NM_133437.4:c.48276A>T (TTN)	NP_597681.4:p.Gln16092His
NR_038271.1:n.447-63T>A (TTN-AS1)
NR_038272.1:n.2044-11335T>A (TTN-AS1)
XM_011511729.1:c.73992A>T (TTN)	XP_011510031.1:p.Gln24664His
XM_011511730.1:c.47886A>T (TTN)	XP_011510032.1:p.Gln15962His
XM_011511731.1:c.47745A>T (TTN)	XP_011510033.1:p.Gln15915His
XM_017004819.1:c.73788A>T (TTN)	XP_016860308.1:p.Gln24596His
XM_017004820.1:c.69186A>T (TTN)	XP_016860309.1:p.Gln23062His
XM_017004821.1:c.69183A>T (TTN)	XP_016860310.1:p.Gln23061His
XM_017004822.1:c.66225A>T (TTN)	XP_016860311.1:p.Gln22075His
XM_017004823.1:c.47841A>T (TTN)	XP_016860312.1:p.Gln15947His
XM_024453094.1:c.69336A>T (TTN)	XP_024308862.1:p.Gln23112His
XM_024453095.1:c.69333A>T (TTN)	XP_024308863.1:p.Gln23111His
XM_024453096.1:c.68766A>T (TTN)	XP_024308864.1:p.Gln22922His
XM_024453097.1:c.66108A>T (TTN)	XP_024308865.1:p.Gln22036His
XM_024453098.1:c.66027A>T (TTN)	XP_024308866.1:p.Gln22009His
XM_024453099.1:c.47790A>T (TTN)	XP_024308867.1:p.Gln15930His
XM_024453100.1:c.37644A>T (TTN)	XP_024308868.1:p.Gln12548His