Canonical Allele Identifier: CA349496799

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457802T>C (hg19) ; chr2:g.178593075T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593075T>C , CM000664.2:g.178593075T>C	GRCh38
NC_000002.11:g.179457802T>C , CM000664.1:g.179457802T>C	GRCh37
NC_000002.10:g.179166048T>C	NCBI36
NG_011618.3:g.242728A>G , LRG_391:g.242728A>G
NG_051363.1:g.75249T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51340A>G (TTN)	ENSP00000343764.6:p.Ser17114Gly
ENST00000342175.11:c.32425A>G (TTN)	ENSP00000340554.6:p.Ser10809Gly
ENST00000359218.10:c.32224A>G (TTN)	ENSP00000352154.5:p.Ser10742Gly
ENST00000342175.10:c.32425A>G (TTN)	ENSP00000340554.6:p.Ser10809Gly
ENST00000342992.10:c.51340A>G (TTN)	ENSP00000343764.6:p.Ser17114Gly
ENST00000359218.9:c.32224A>G (TTN)	ENSP00000352154.5:p.Ser10742Gly
ENST00000460472.6:c.31849A>G (TTN)	ENSP00000434586.1:p.Ser10617Gly
ENST00000589042.5:c.59044A>G (TTN) MANE Select	ENSP00000467141.1:p.Ser19682Gly
ENST00000591111.5:c.54121A>G (TTN)	ENSP00000465570.1:p.Ser18041Gly
ENST00000615779.4:c.54121A>G (TTN)	ENSP00000483597.1:p.Ser18041Gly
NM_001256850.1:c.54121A>G (TTN)	NP_001243779.1:p.Ser18041Gly
NM_001267550.2:c.59044A>G (TTN) MANE Select	NP_001254479.2:p.Ser19682Gly
NM_003319.4:c.31849A>G (TTN)	NP_003310.4:p.Ser10617Gly
NM_133378.4:c.51340A>G (TTN)	NP_596869.4:p.Ser17114Gly
NM_133432.3:c.32224A>G (TTN)	NP_597676.3:p.Ser10742Gly
NM_133437.4:c.32425A>G (TTN)	NP_597681.4:p.Ser10809Gly
NR_038271.1:n.597-4521T>C (TTN-AS1)
NR_038272.1:n.3364+1761T>C (TTN-AS1)
XM_011511729.1:c.58141A>G (TTN)	XP_011510031.1:p.Ser19381Gly
XM_011511730.1:c.32035A>G (TTN)	XP_011510032.1:p.Ser10679Gly
XM_011511731.1:c.31894A>G (TTN)	XP_011510033.1:p.Ser10632Gly
XM_017004819.1:c.57937A>G (TTN)	XP_016860308.1:p.Ser19313Gly
XM_017004820.1:c.53335A>G (TTN)	XP_016860309.1:p.Ser17779Gly
XM_017004821.1:c.53332A>G (TTN)	XP_016860310.1:p.Ser17778Gly
XM_017004822.1:c.50374A>G (TTN)	XP_016860311.1:p.Ser16792Gly
XM_017004823.1:c.31990A>G (TTN)	XP_016860312.1:p.Ser10664Gly
XM_024453094.1:c.53485A>G (TTN)	XP_024308862.1:p.Ser17829Gly
XM_024453095.1:c.53482A>G (TTN)	XP_024308863.1:p.Ser17828Gly
XM_024453096.1:c.52915A>G (TTN)	XP_024308864.1:p.Ser17639Gly
XM_024453097.1:c.50257A>G (TTN)	XP_024308865.1:p.Ser16753Gly
XM_024453098.1:c.50176A>G (TTN)	XP_024308866.1:p.Ser16726Gly
XM_024453099.1:c.31939A>G (TTN)	XP_024308867.1:p.Ser10647Gly
XM_024453100.1:c.21793A>G (TTN)	XP_024308868.1:p.Ser7265Gly