Canonical Allele Identifier: CA349494200

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457511C>G (hg19) ; chr2:g.178592784C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178592784C>G , CM000664.2:g.178592784C>G	GRCh38
NC_000002.11:g.179457511C>G , CM000664.1:g.179457511C>G	GRCh37
NC_000002.10:g.179165757C>G	NCBI36
NG_011618.3:g.243019G>C , LRG_391:g.243019G>C
NG_051363.1:g.74958C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51631G>C (TTN)	ENSP00000343764.6:p.Asp17211His
ENST00000342175.11:c.32716G>C (TTN)	ENSP00000340554.6:p.Asp10906His
ENST00000359218.10:c.32515G>C (TTN)	ENSP00000352154.5:p.Asp10839His
ENST00000342175.10:c.32716G>C (TTN)	ENSP00000340554.6:p.Asp10906His
ENST00000342992.10:c.51631G>C (TTN)	ENSP00000343764.6:p.Asp17211His
ENST00000359218.9:c.32515G>C (TTN)	ENSP00000352154.5:p.Asp10839His
ENST00000460472.6:c.32140G>C (TTN)	ENSP00000434586.1:p.Asp10714His
ENST00000589042.5:c.59335G>C (TTN) MANE Select	ENSP00000467141.1:p.Asp19779His
ENST00000591111.5:c.54412G>C (TTN)	ENSP00000465570.1:p.Asp18138His
ENST00000615779.4:c.54412G>C (TTN)	ENSP00000483597.1:p.Asp18138His
NM_001256850.1:c.54412G>C (TTN)	NP_001243779.1:p.Asp18138His
NM_001267550.2:c.59335G>C (TTN) MANE Select	NP_001254479.2:p.Asp19779His
NM_003319.4:c.32140G>C (TTN)	NP_003310.4:p.Asp10714His
NM_133378.4:c.51631G>C (TTN)	NP_596869.4:p.Asp17211His
NM_133432.3:c.32515G>C (TTN)	NP_597676.3:p.Asp10839His
NM_133437.4:c.32716G>C (TTN)	NP_597681.4:p.Asp10906His
NR_038271.1:n.597-4812C>G (TTN-AS1)
NR_038272.1:n.3364+1470C>G (TTN-AS1)
XM_011511729.1:c.58432G>C (TTN)	XP_011510031.1:p.Asp19478His
XM_011511730.1:c.32326G>C (TTN)	XP_011510032.1:p.Asp10776His
XM_011511731.1:c.32185G>C (TTN)	XP_011510033.1:p.Asp10729His
XM_017004819.1:c.58228G>C (TTN)	XP_016860308.1:p.Asp19410His
XM_017004820.1:c.53626G>C (TTN)	XP_016860309.1:p.Asp17876His
XM_017004821.1:c.53623G>C (TTN)	XP_016860310.1:p.Asp17875His
XM_017004822.1:c.50665G>C (TTN)	XP_016860311.1:p.Asp16889His
XM_017004823.1:c.32281G>C (TTN)	XP_016860312.1:p.Asp10761His
XM_024453094.1:c.53776G>C (TTN)	XP_024308862.1:p.Asp17926His
XM_024453095.1:c.53773G>C (TTN)	XP_024308863.1:p.Asp17925His
XM_024453096.1:c.53206G>C (TTN)	XP_024308864.1:p.Asp17736His
XM_024453097.1:c.50548G>C (TTN)	XP_024308865.1:p.Asp16850His
XM_024453098.1:c.50467G>C (TTN)	XP_024308866.1:p.Asp16823His
XM_024453099.1:c.32230G>C (TTN)	XP_024308867.1:p.Asp10744His
XM_024453100.1:c.22084G>C (TTN)	XP_024308868.1:p.Asp7362His