Canonical Allele Identifier: CA349411646

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396872G>C (hg19) ; chr2:g.178532145G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532145G>C , CM000664.2:g.178532145G>C	GRCh38
NC_000002.11:g.179396872G>C , CM000664.1:g.179396872G>C	GRCh37
NC_000002.10:g.179105118G>C	NCBI36
NG_011618.3:g.303658C>G , LRG_391:g.303658C>G
NG_051363.1:g.14319G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96766C>G (TTN)	ENSP00000343764.6:p.His32256Asp
ENST00000342175.11:c.77851C>G (TTN)	ENSP00000340554.6:p.His25951Asp
ENST00000359218.10:c.77650C>G (TTN)	ENSP00000352154.5:p.His25884Asp
ENST00000342175.10:c.77851C>G (TTN)	ENSP00000340554.6:p.His25951Asp
ENST00000342992.10:c.96766C>G (TTN)	ENSP00000343764.6:p.His32256Asp
ENST00000359218.9:c.77650C>G (TTN)	ENSP00000352154.5:p.His25884Asp
ENST00000460472.6:c.77275C>G (TTN)	ENSP00000434586.1:p.His25759Asp
ENST00000589042.5:c.104470C>G (TTN) MANE Select	ENSP00000467141.1:p.His34824Asp
ENST00000591111.5:c.99547C>G (TTN)	ENSP00000465570.1:p.His33183Asp
ENST00000615779.4:c.99547C>G (TTN)	ENSP00000483597.1:p.His33183Asp
NM_001256850.1:c.99547C>G (TTN)	NP_001243779.1:p.His33183Asp
NM_001267550.2:c.104470C>G (TTN) MANE Select	NP_001254479.2:p.His34824Asp
NM_003319.4:c.77275C>G (TTN)	NP_003310.4:p.His25759Asp
NM_133378.4:c.96766C>G (TTN)	NP_596869.4:p.His32256Asp
NM_133432.3:c.77650C>G (TTN)	NP_597676.3:p.His25884Asp
NM_133437.4:c.77851C>G (TTN)	NP_597681.4:p.His25951Asp
NR_038271.1:n.446+8509G>C (TTN-AS1)
NR_038272.1:n.220-3587G>C (TTN-AS1)
XM_011511729.1:c.103567C>G (TTN)	XP_011510031.1:p.His34523Asp
XM_011511730.1:c.77461C>G (TTN)	XP_011510032.1:p.His25821Asp
XM_011511731.1:c.77320C>G (TTN)	XP_011510033.1:p.His25774Asp
XM_017004819.1:c.103363C>G (TTN)	XP_016860308.1:p.His34455Asp
XM_017004820.1:c.98761C>G (TTN)	XP_016860309.1:p.His32921Asp
XM_017004821.1:c.98758C>G (TTN)	XP_016860310.1:p.His32920Asp
XM_017004822.1:c.95800C>G (TTN)	XP_016860311.1:p.His31934Asp
XM_017004823.1:c.77416C>G (TTN)	XP_016860312.1:p.His25806Asp
XM_024453094.1:c.98911C>G (TTN)	XP_024308862.1:p.His32971Asp
XM_024453095.1:c.98908C>G (TTN)	XP_024308863.1:p.His32970Asp
XM_024453096.1:c.98341C>G (TTN)	XP_024308864.1:p.His32781Asp
XM_024453097.1:c.95683C>G (TTN)	XP_024308865.1:p.His31895Asp
XM_024453098.1:c.95602C>G (TTN)	XP_024308866.1:p.His31868Asp
XM_024453099.1:c.77365C>G (TTN)	XP_024308867.1:p.His25789Asp
XM_024453100.1:c.67219C>G (TTN)	XP_024308868.1:p.His22407Asp