Canonical Allele Identifier: CA349594312

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179431163G>C (hg19) ; chr2:g.178566436G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566436G>C , CM000664.2:g.178566436G>C	GRCh38
NC_000002.11:g.179431163G>C , CM000664.1:g.179431163G>C	GRCh37
NC_000002.10:g.179139409G>C	NCBI36
NG_011618.3:g.269367C>G , LRG_391:g.269367C>G
NG_051363.1:g.48610G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71992C>G (TTN)	ENSP00000343764.6:p.Leu23998Val
ENST00000342175.11:c.53077C>G (TTN)	ENSP00000340554.6:p.Leu17693Val
ENST00000359218.10:c.52876C>G (TTN)	ENSP00000352154.5:p.Leu17626Val
ENST00000342175.10:c.53077C>G (TTN)	ENSP00000340554.6:p.Leu17693Val
ENST00000342992.10:c.71992C>G (TTN)	ENSP00000343764.6:p.Leu23998Val
ENST00000359218.9:c.52876C>G (TTN)	ENSP00000352154.5:p.Leu17626Val
ENST00000460472.6:c.52501C>G (TTN)	ENSP00000434586.1:p.Leu17501Val
ENST00000589042.5:c.79696C>G (TTN) MANE Select	ENSP00000467141.1:p.Leu26566Val
ENST00000591111.5:c.74773C>G (TTN)	ENSP00000465570.1:p.Leu24925Val
ENST00000615779.4:c.74773C>G (TTN)	ENSP00000483597.1:p.Leu24925Val
NM_001256850.1:c.74773C>G (TTN)	NP_001243779.1:p.Leu24925Val
NM_001267550.2:c.79696C>G (TTN) MANE Select	NP_001254479.2:p.Leu26566Val
NM_003319.4:c.52501C>G (TTN)	NP_003310.4:p.Leu17501Val
NM_133378.4:c.71992C>G (TTN)	NP_596869.4:p.Leu23998Val
NM_133432.3:c.52876C>G (TTN)	NP_597676.3:p.Leu17626Val
NM_133437.4:c.53077C>G (TTN)	NP_597681.4:p.Leu17693Val
NR_038271.1:n.447-4864G>C (TTN-AS1)
NR_038272.1:n.2044-16136G>C (TTN-AS1)
XM_011511729.1:c.78793C>G (TTN)	XP_011510031.1:p.Leu26265Val
XM_011511730.1:c.52687C>G (TTN)	XP_011510032.1:p.Leu17563Val
XM_011511731.1:c.52546C>G (TTN)	XP_011510033.1:p.Leu17516Val
XM_017004819.1:c.78589C>G (TTN)	XP_016860308.1:p.Leu26197Val
XM_017004820.1:c.73987C>G (TTN)	XP_016860309.1:p.Leu24663Val
XM_017004821.1:c.73984C>G (TTN)	XP_016860310.1:p.Leu24662Val
XM_017004822.1:c.71026C>G (TTN)	XP_016860311.1:p.Leu23676Val
XM_017004823.1:c.52642C>G (TTN)	XP_016860312.1:p.Leu17548Val
XM_024453094.1:c.74137C>G (TTN)	XP_024308862.1:p.Leu24713Val
XM_024453095.1:c.74134C>G (TTN)	XP_024308863.1:p.Leu24712Val
XM_024453096.1:c.73567C>G (TTN)	XP_024308864.1:p.Leu24523Val
XM_024453097.1:c.70909C>G (TTN)	XP_024308865.1:p.Leu23637Val
XM_024453098.1:c.70828C>G (TTN)	XP_024308866.1:p.Leu23610Val
XM_024453099.1:c.52591C>G (TTN)	XP_024308867.1:p.Leu17531Val
XM_024453100.1:c.42445C>G (TTN)	XP_024308868.1:p.Leu14149Val