Canonical Allele Identifier: CA349480119

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179455747A>C (hg19) ; chr2:g.178591020A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591020A>C , CM000664.2:g.178591020A>C	GRCh38
NC_000002.11:g.179455747A>C , CM000664.1:g.179455747A>C	GRCh37
NC_000002.10:g.179163993A>C	NCBI36
NG_011618.3:g.244783T>G , LRG_391:g.244783T>G
NG_051363.1:g.73194A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53001T>G (TTN)	ENSP00000343764.6:p.His17667Gln
ENST00000342175.11:c.34086T>G (TTN)	ENSP00000340554.6:p.His11362Gln
ENST00000359218.10:c.33885T>G (TTN)	ENSP00000352154.5:p.His11295Gln
ENST00000342175.10:c.34086T>G (TTN)	ENSP00000340554.6:p.His11362Gln
ENST00000342992.10:c.53001T>G (TTN)	ENSP00000343764.6:p.His17667Gln
ENST00000359218.9:c.33885T>G (TTN)	ENSP00000352154.5:p.His11295Gln
ENST00000460472.6:c.33510T>G (TTN)	ENSP00000434586.1:p.His11170Gln
ENST00000589042.5:c.60705T>G (TTN) MANE Select	ENSP00000467141.1:p.His20235Gln
ENST00000591111.5:c.55782T>G (TTN)	ENSP00000465570.1:p.His18594Gln
ENST00000615779.4:c.55782T>G (TTN)	ENSP00000483597.1:p.His18594Gln
NM_001256850.1:c.55782T>G (TTN)	NP_001243779.1:p.His18594Gln
NM_001267550.2:c.60705T>G (TTN) MANE Select	NP_001254479.2:p.His20235Gln
NM_003319.4:c.33510T>G (TTN)	NP_003310.4:p.His11170Gln
NM_133378.4:c.53001T>G (TTN)	NP_596869.4:p.His17667Gln
NM_133432.3:c.33885T>G (TTN)	NP_597676.3:p.His11295Gln
NM_133437.4:c.34086T>G (TTN)	NP_597681.4:p.His11362Gln
NR_038271.1:n.597-6576A>C (TTN-AS1)
NR_038272.1:n.3189-119A>C (TTN-AS1)
XM_011511729.1:c.59802T>G (TTN)	XP_011510031.1:p.His19934Gln
XM_011511730.1:c.33696T>G (TTN)	XP_011510032.1:p.His11232Gln
XM_011511731.1:c.33555T>G (TTN)	XP_011510033.1:p.His11185Gln
XM_017004819.1:c.59598T>G (TTN)	XP_016860308.1:p.His19866Gln
XM_017004820.1:c.54996T>G (TTN)	XP_016860309.1:p.His18332Gln
XM_017004821.1:c.54993T>G (TTN)	XP_016860310.1:p.His18331Gln
XM_017004822.1:c.52035T>G (TTN)	XP_016860311.1:p.His17345Gln
XM_017004823.1:c.33651T>G (TTN)	XP_016860312.1:p.His11217Gln
XM_024453094.1:c.55146T>G (TTN)	XP_024308862.1:p.His18382Gln
XM_024453095.1:c.55143T>G (TTN)	XP_024308863.1:p.His18381Gln
XM_024453096.1:c.54576T>G (TTN)	XP_024308864.1:p.His18192Gln
XM_024453097.1:c.51918T>G (TTN)	XP_024308865.1:p.His17306Gln
XM_024453098.1:c.51837T>G (TTN)	XP_024308866.1:p.His17279Gln
XM_024453099.1:c.33600T>G (TTN)	XP_024308867.1:p.His11200Gln
XM_024453100.1:c.23454T>G (TTN)	XP_024308868.1:p.His7818Gln