Canonical Allele Identifier: CA349600710

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs72648205
• MyVariant Identifiers: chr2:g.179431967C>G (hg19) ; chr2:g.178567240C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567240C>G , CM000664.2:g.178567240C>G	GRCh38
NC_000002.11:g.179431967C>G , CM000664.1:g.179431967C>G	GRCh37
NC_000002.10:g.179140213C>G	NCBI36
NG_011618.3:g.268563G>C , LRG_391:g.268563G>C
NG_051363.1:g.49414C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.71188G>C (TTN)	ENSP00000343764.6:p.Gly23730Arg
ENST00000342175.11:c.52273G>C (TTN)	ENSP00000340554.6:p.Gly17425Arg
ENST00000359218.10:c.52072G>C (TTN)	ENSP00000352154.5:p.Gly17358Arg
ENST00000342175.10:c.52273G>C (TTN)	ENSP00000340554.6:p.Gly17425Arg
ENST00000342992.10:c.71188G>C (TTN)	ENSP00000343764.6:p.Gly23730Arg
ENST00000359218.9:c.52072G>C (TTN)	ENSP00000352154.5:p.Gly17358Arg
ENST00000460472.6:c.51697G>C (TTN)	ENSP00000434586.1:p.Gly17233Arg
ENST00000589042.5:c.78892G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly26298Arg
ENST00000591111.5:c.73969G>C (TTN)	ENSP00000465570.1:p.Gly24657Arg
ENST00000615779.4:c.73969G>C (TTN)	ENSP00000483597.1:p.Gly24657Arg
NM_001256850.1:c.73969G>C (TTN)	NP_001243779.1:p.Gly24657Arg
NM_001267550.2:c.78892G>C (TTN) MANE Select	NP_001254479.2:p.Gly26298Arg
NM_003319.4:c.51697G>C (TTN)	NP_003310.4:p.Gly17233Arg
NM_133378.4:c.71188G>C (TTN)	NP_596869.4:p.Gly23730Arg
NM_133432.3:c.52072G>C (TTN)	NP_597676.3:p.Gly17358Arg
NM_133437.4:c.52273G>C (TTN)	NP_597681.4:p.Gly17425Arg
NR_038271.1:n.447-4060C>G (TTN-AS1)
NR_038272.1:n.2044-15332C>G (TTN-AS1)
XM_011511729.1:c.77989G>C (TTN)	XP_011510031.1:p.Gly25997Arg
XM_011511730.1:c.51883G>C (TTN)	XP_011510032.1:p.Gly17295Arg
XM_011511731.1:c.51742G>C (TTN)	XP_011510033.1:p.Gly17248Arg
XM_017004819.1:c.77785G>C (TTN)	XP_016860308.1:p.Gly25929Arg
XM_017004820.1:c.73183G>C (TTN)	XP_016860309.1:p.Gly24395Arg
XM_017004821.1:c.73180G>C (TTN)	XP_016860310.1:p.Gly24394Arg
XM_017004822.1:c.70222G>C (TTN)	XP_016860311.1:p.Gly23408Arg
XM_017004823.1:c.51838G>C (TTN)	XP_016860312.1:p.Gly17280Arg
XM_024453094.1:c.73333G>C (TTN)	XP_024308862.1:p.Gly24445Arg
XM_024453095.1:c.73330G>C (TTN)	XP_024308863.1:p.Gly24444Arg
XM_024453096.1:c.72763G>C (TTN)	XP_024308864.1:p.Gly24255Arg
XM_024453097.1:c.70105G>C (TTN)	XP_024308865.1:p.Gly23369Arg
XM_024453098.1:c.70024G>C (TTN)	XP_024308866.1:p.Gly23342Arg
XM_024453099.1:c.51787G>C (TTN)	XP_024308867.1:p.Gly17263Arg
XM_024453100.1:c.41641G>C (TTN)	XP_024308868.1:p.Gly13881Arg