Canonical Allele Identifier: CA349594308

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178566435-A-G
• MyVariant Identifiers: chr2:g.179431162A>G (hg19) ; chr2:g.178566435A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566435A>G , CM000664.2:g.178566435A>G	GRCh38
NC_000002.11:g.179431162A>G , CM000664.1:g.179431162A>G	GRCh37
NC_000002.10:g.179139408A>G	NCBI36
NG_011618.3:g.269368T>C , LRG_391:g.269368T>C
NG_051363.1:g.48609A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71993T>C (TTN)	ENSP00000343764.6:p.Leu23998Pro
ENST00000342175.11:c.53078T>C (TTN)	ENSP00000340554.6:p.Leu17693Pro
ENST00000359218.10:c.52877T>C (TTN)	ENSP00000352154.5:p.Leu17626Pro
ENST00000342175.10:c.53078T>C (TTN)	ENSP00000340554.6:p.Leu17693Pro
ENST00000342992.10:c.71993T>C (TTN)	ENSP00000343764.6:p.Leu23998Pro
ENST00000359218.9:c.52877T>C (TTN)	ENSP00000352154.5:p.Leu17626Pro
ENST00000460472.6:c.52502T>C (TTN)	ENSP00000434586.1:p.Leu17501Pro
ENST00000589042.5:c.79697T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu26566Pro
ENST00000591111.5:c.74774T>C (TTN)	ENSP00000465570.1:p.Leu24925Pro
ENST00000615779.4:c.74774T>C (TTN)	ENSP00000483597.1:p.Leu24925Pro
NM_001256850.1:c.74774T>C (TTN)	NP_001243779.1:p.Leu24925Pro
NM_001267550.2:c.79697T>C (TTN) MANE Select	NP_001254479.2:p.Leu26566Pro
NM_003319.4:c.52502T>C (TTN)	NP_003310.4:p.Leu17501Pro
NM_133378.4:c.71993T>C (TTN)	NP_596869.4:p.Leu23998Pro
NM_133432.3:c.52877T>C (TTN)	NP_597676.3:p.Leu17626Pro
NM_133437.4:c.53078T>C (TTN)	NP_597681.4:p.Leu17693Pro
NR_038271.1:n.447-4865A>G (TTN-AS1)
NR_038272.1:n.2044-16137A>G (TTN-AS1)
XM_011511729.1:c.78794T>C (TTN)	XP_011510031.1:p.Leu26265Pro
XM_011511730.1:c.52688T>C (TTN)	XP_011510032.1:p.Leu17563Pro
XM_011511731.1:c.52547T>C (TTN)	XP_011510033.1:p.Leu17516Pro
XM_017004819.1:c.78590T>C (TTN)	XP_016860308.1:p.Leu26197Pro
XM_017004820.1:c.73988T>C (TTN)	XP_016860309.1:p.Leu24663Pro
XM_017004821.1:c.73985T>C (TTN)	XP_016860310.1:p.Leu24662Pro
XM_017004822.1:c.71027T>C (TTN)	XP_016860311.1:p.Leu23676Pro
XM_017004823.1:c.52643T>C (TTN)	XP_016860312.1:p.Leu17548Pro
XM_024453094.1:c.74138T>C (TTN)	XP_024308862.1:p.Leu24713Pro
XM_024453095.1:c.74135T>C (TTN)	XP_024308863.1:p.Leu24712Pro
XM_024453096.1:c.73568T>C (TTN)	XP_024308864.1:p.Leu24523Pro
XM_024453097.1:c.70910T>C (TTN)	XP_024308865.1:p.Leu23637Pro
XM_024453098.1:c.70829T>C (TTN)	XP_024308866.1:p.Leu23610Pro
XM_024453099.1:c.52592T>C (TTN)	XP_024308867.1:p.Leu17531Pro
XM_024453100.1:c.42446T>C (TTN)	XP_024308868.1:p.Leu14149Pro