Canonical Allele Identifier: CA349496065

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM717323 ; COSM717324 ; COSM717325 ; COSM1148514
• MyVariant Identifiers: chr2:g.179414546C>A (hg19) ; chr2:g.178549819C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549819C>A , CM000664.2:g.178549819C>A	GRCh38
NC_000002.11:g.179414546C>A , CM000664.1:g.179414546C>A	GRCh37
NC_000002.10:g.179122792C>A	NCBI36
NG_011618.3:g.285984G>T , LRG_391:g.285984G>T
NG_051363.1:g.31993C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84199G>T (TTN)	ENSP00000343764.6:p.Glu28067Ter
ENST00000342175.11:c.65284G>T (TTN)	ENSP00000340554.6:p.Glu21762Ter
ENST00000359218.10:c.65083G>T (TTN)	ENSP00000352154.5:p.Glu21695Ter
ENST00000342175.10:c.65284G>T (TTN)	ENSP00000340554.6:p.Glu21762Ter
ENST00000342992.10:c.84199G>T (TTN)	ENSP00000343764.6:p.Glu28067Ter
ENST00000359218.9:c.65083G>T (TTN)	ENSP00000352154.5:p.Glu21695Ter
ENST00000460472.6:c.64708G>T (TTN)	ENSP00000434586.1:p.Glu21570Ter
ENST00000589042.5:c.91903G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu30635Ter
ENST00000591111.5:c.86980G>T (TTN)	ENSP00000465570.1:p.Glu28994Ter
ENST00000615779.4:c.86980G>T (TTN)	ENSP00000483597.1:p.Glu28994Ter
NM_001256850.1:c.86980G>T (TTN)	NP_001243779.1:p.Glu28994Ter
NM_001267550.2:c.91903G>T (TTN) MANE Select	NP_001254479.2:p.Glu30635Ter
NM_003319.4:c.64708G>T (TTN)	NP_003310.4:p.Glu21570Ter
NM_133378.4:c.84199G>T (TTN)	NP_596869.4:p.Glu28067Ter
NM_133432.3:c.65083G>T (TTN)	NP_597676.3:p.Glu21695Ter
NM_133437.4:c.65284G>T (TTN)	NP_597681.4:p.Glu21762Ter
NR_038271.1:n.447-21481C>A (TTN-AS1)
NR_038272.1:n.2043+7458C>A (TTN-AS1)
XM_011511729.1:c.91000G>T (TTN)	XP_011510031.1:p.Glu30334Ter
XM_011511730.1:c.64894G>T (TTN)	XP_011510032.1:p.Glu21632Ter
XM_011511731.1:c.64753G>T (TTN)	XP_011510033.1:p.Glu21585Ter
XM_017004819.1:c.90796G>T (TTN)	XP_016860308.1:p.Glu30266Ter
XM_017004820.1:c.86194G>T (TTN)	XP_016860309.1:p.Glu28732Ter
XM_017004821.1:c.86191G>T (TTN)	XP_016860310.1:p.Glu28731Ter
XM_017004822.1:c.83233G>T (TTN)	XP_016860311.1:p.Glu27745Ter
XM_017004823.1:c.64849G>T (TTN)	XP_016860312.1:p.Glu21617Ter
XM_024453094.1:c.86344G>T (TTN)	XP_024308862.1:p.Glu28782Ter
XM_024453095.1:c.86341G>T (TTN)	XP_024308863.1:p.Glu28781Ter
XM_024453096.1:c.85774G>T (TTN)	XP_024308864.1:p.Glu28592Ter
XM_024453097.1:c.83116G>T (TTN)	XP_024308865.1:p.Glu27706Ter
XM_024453098.1:c.83035G>T (TTN)	XP_024308866.1:p.Glu27679Ter
XM_024453099.1:c.64798G>T (TTN)	XP_024308867.1:p.Glu21600Ter
XM_024453100.1:c.54652G>T (TTN)	XP_024308868.1:p.Glu18218Ter