Canonical Allele Identifier: CA349543885

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 466666
• ClinVar RCV Id: RCV000526787 ; RCV002506341 ; RCV003302840
• dbSNP Id: rs1553560951
• MyVariant Identifiers: chr2:g.179424433G>C (hg19) ; chr2:g.178559706G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559706G>C , CM000664.2:g.178559706G>C	GRCh38
NC_000002.11:g.179424433G>C , CM000664.1:g.179424433G>C	GRCh37
NC_000002.10:g.179132679G>C	NCBI36
NG_011618.3:g.276097C>G , LRG_391:g.276097C>G
NG_051363.1:g.41880G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.78722C>G (TTN)	ENSP00000343764.6:p.Ser26241Ter
ENST00000342175.11:c.59807C>G (TTN)	ENSP00000340554.6:p.Ser19936Ter
ENST00000359218.10:c.59606C>G (TTN)	ENSP00000352154.5:p.Ser19869Ter
ENST00000342175.10:c.59807C>G (TTN)	ENSP00000340554.6:p.Ser19936Ter
ENST00000342992.10:c.78722C>G (TTN)	ENSP00000343764.6:p.Ser26241Ter
ENST00000359218.9:c.59606C>G (TTN)	ENSP00000352154.5:p.Ser19869Ter
ENST00000460472.6:c.59231C>G (TTN)	ENSP00000434586.1:p.Ser19744Ter
ENST00000589042.5:c.86426C>G (TTN) MANE Select	ENSP00000467141.1:p.Ser28809Ter
ENST00000591111.5:c.81503C>G (TTN)	ENSP00000465570.1:p.Ser27168Ter
ENST00000615779.4:c.81503C>G (TTN)	ENSP00000483597.1:p.Ser27168Ter
NM_001256850.1:c.81503C>G (TTN)	NP_001243779.1:p.Ser27168Ter
NM_001267550.2:c.86426C>G (TTN) MANE Select	NP_001254479.2:p.Ser28809Ter
NM_003319.4:c.59231C>G (TTN)	NP_003310.4:p.Ser19744Ter
NM_133378.4:c.78722C>G (TTN)	NP_596869.4:p.Ser26241Ter
NM_133432.3:c.59606C>G (TTN)	NP_597676.3:p.Ser19869Ter
NM_133437.4:c.59807C>G (TTN)	NP_597681.4:p.Ser19936Ter
NR_038271.1:n.447-11594G>C (TTN-AS1)
NR_038272.1:n.2043+17345G>C (TTN-AS1)
XM_011511729.1:c.85523C>G (TTN)	XP_011510031.1:p.Ser28508Ter
XM_011511730.1:c.59417C>G (TTN)	XP_011510032.1:p.Ser19806Ter
XM_011511731.1:c.59276C>G (TTN)	XP_011510033.1:p.Ser19759Ter
XM_017004819.1:c.85319C>G (TTN)	XP_016860308.1:p.Ser28440Ter
XM_017004820.1:c.80717C>G (TTN)	XP_016860309.1:p.Ser26906Ter
XM_017004821.1:c.80714C>G (TTN)	XP_016860310.1:p.Ser26905Ter
XM_017004822.1:c.77756C>G (TTN)	XP_016860311.1:p.Ser25919Ter
XM_017004823.1:c.59372C>G (TTN)	XP_016860312.1:p.Ser19791Ter
XM_024453094.1:c.80867C>G (TTN)	XP_024308862.1:p.Ser26956Ter
XM_024453095.1:c.80864C>G (TTN)	XP_024308863.1:p.Ser26955Ter
XM_024453096.1:c.80297C>G (TTN)	XP_024308864.1:p.Ser26766Ter
XM_024453097.1:c.77639C>G (TTN)	XP_024308865.1:p.Ser25880Ter
XM_024453098.1:c.77558C>G (TTN)	XP_024308866.1:p.Ser25853Ter
XM_024453099.1:c.59321C>G (TTN)	XP_024308867.1:p.Ser19774Ter
XM_024453100.1:c.49175C>G (TTN)	XP_024308868.1:p.Ser16392Ter