Canonical Allele Identifier: CA349423552

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179444393T>A (hg19) ; chr2:g.178579666T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579666T>A , CM000664.2:g.178579666T>A	GRCh38
NC_000002.11:g.179444393T>A , CM000664.1:g.179444393T>A	GRCh37
NC_000002.10:g.179152639T>A	NCBI36
NG_011618.3:g.256137A>T , LRG_391:g.256137A>T
NG_051363.1:g.61840T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.59827A>T (TTN)	ENSP00000343764.6:p.Lys19943Ter
ENST00000342175.11:c.40912A>T (TTN)	ENSP00000340554.6:p.Lys13638Ter
ENST00000359218.10:c.40711A>T (TTN)	ENSP00000352154.5:p.Lys13571Ter
ENST00000342175.10:c.40912A>T (TTN)	ENSP00000340554.6:p.Lys13638Ter
ENST00000342992.10:c.59827A>T (TTN)	ENSP00000343764.6:p.Lys19943Ter
ENST00000359218.9:c.40711A>T (TTN)	ENSP00000352154.5:p.Lys13571Ter
ENST00000460472.6:c.40336A>T (TTN)	ENSP00000434586.1:p.Lys13446Ter
ENST00000589042.5:c.67531A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys22511Ter
ENST00000591111.5:c.62608A>T (TTN)	ENSP00000465570.1:p.Lys20870Ter
ENST00000615779.4:c.62608A>T (TTN)	ENSP00000483597.1:p.Lys20870Ter
NM_001256850.1:c.62608A>T (TTN)	NP_001243779.1:p.Lys20870Ter
NM_001267550.2:c.67531A>T (TTN) MANE Select	NP_001254479.2:p.Lys22511Ter
NM_003319.4:c.40336A>T (TTN)	NP_003310.4:p.Lys13446Ter
NM_133378.4:c.59827A>T (TTN)	NP_596869.4:p.Lys19943Ter
NM_133432.3:c.40711A>T (TTN)	NP_597676.3:p.Lys13571Ter
NM_133437.4:c.40912A>T (TTN)	NP_597681.4:p.Lys13638Ter
NR_038271.1:n.596+8217T>A (TTN-AS1)
NR_038272.1:n.2044-2906T>A (TTN-AS1)
XM_011511729.1:c.66628A>T (TTN)	XP_011510031.1:p.Lys22210Ter
XM_011511730.1:c.40522A>T (TTN)	XP_011510032.1:p.Lys13508Ter
XM_011511731.1:c.40381A>T (TTN)	XP_011510033.1:p.Lys13461Ter
XM_017004819.1:c.66424A>T (TTN)	XP_016860308.1:p.Lys22142Ter
XM_017004820.1:c.61822A>T (TTN)	XP_016860309.1:p.Lys20608Ter
XM_017004821.1:c.61819A>T (TTN)	XP_016860310.1:p.Lys20607Ter
XM_017004822.1:c.58861A>T (TTN)	XP_016860311.1:p.Lys19621Ter
XM_017004823.1:c.40477A>T (TTN)	XP_016860312.1:p.Lys13493Ter
XM_024453094.1:c.61972A>T (TTN)	XP_024308862.1:p.Lys20658Ter
XM_024453095.1:c.61969A>T (TTN)	XP_024308863.1:p.Lys20657Ter
XM_024453096.1:c.61402A>T (TTN)	XP_024308864.1:p.Lys20468Ter
XM_024453097.1:c.58744A>T (TTN)	XP_024308865.1:p.Lys19582Ter
XM_024453098.1:c.58663A>T (TTN)	XP_024308866.1:p.Lys19555Ter
XM_024453099.1:c.40426A>T (TTN)	XP_024308867.1:p.Lys13476Ter
XM_024453100.1:c.30280A>T (TTN)	XP_024308868.1:p.Lys10094Ter