Canonical Allele Identifier: CA430254051

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433741A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569014A>G , CM000664.2:g.178569014A>G	GRCh38
NC_000002.11:g.179433741A>G , CM000664.1:g.179433741A>G	GRCh37
NC_000002.10:g.179141987A>G	NCBI36
NG_011618.3:g.266789T>C , LRG_391:g.266789T>C
NG_051363.1:g.51188A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69414T>C (TTN)	ENSP00000343764.6:p.Thr23138=
ENST00000342175.11:c.50499T>C (TTN)	ENSP00000340554.6:p.Thr16833=
ENST00000359218.10:c.50298T>C (TTN)	ENSP00000352154.5:p.Thr16766=
ENST00000342175.10:c.50499T>C (TTN)	ENSP00000340554.6:p.Thr16833=
ENST00000342992.10:c.69414T>C (TTN)	ENSP00000343764.6:p.Thr23138=
ENST00000359218.9:c.50298T>C (TTN)	ENSP00000352154.5:p.Thr16766=
ENST00000460472.6:c.49923T>C (TTN)	ENSP00000434586.1:p.Thr16641=
ENST00000589042.5:c.77118T>C (TTN) MANE Select	ENSP00000467141.1:p.Thr25706=
ENST00000591111.5:c.72195T>C (TTN)	ENSP00000465570.1:p.Thr24065=
ENST00000615779.4:c.72195T>C (TTN)	ENSP00000483597.1:p.Thr24065=
NM_001256850.1:c.72195T>C (TTN)	NP_001243779.1:p.Thr24065=
NM_001267550.2:c.77118T>C (TTN) MANE Select	NP_001254479.2:p.Thr25706=
NM_003319.4:c.49923T>C (TTN)	NP_003310.4:p.Thr16641=
NM_133378.4:c.69414T>C (TTN)	NP_596869.4:p.Thr23138=
NM_133432.3:c.50298T>C (TTN)	NP_597676.3:p.Thr16766=
NM_133437.4:c.50499T>C (TTN)	NP_597681.4:p.Thr16833=
NR_038271.1:n.447-2286A>G (TTN-AS1)
NR_038272.1:n.2044-13558A>G (TTN-AS1)
XM_011511729.1:c.76215T>C (TTN)	XP_011510031.1:p.Thr25405=
XM_011511730.1:c.50109T>C (TTN)	XP_011510032.1:p.Thr16703=
XM_011511731.1:c.49968T>C (TTN)	XP_011510033.1:p.Thr16656=
XM_017004819.1:c.76011T>C (TTN)	XP_016860308.1:p.Thr25337=
XM_017004820.1:c.71409T>C (TTN)	XP_016860309.1:p.Thr23803=
XM_017004821.1:c.71406T>C (TTN)	XP_016860310.1:p.Thr23802=
XM_017004822.1:c.68448T>C (TTN)	XP_016860311.1:p.Thr22816=
XM_017004823.1:c.50064T>C (TTN)	XP_016860312.1:p.Thr16688=
XM_024453094.1:c.71559T>C (TTN)	XP_024308862.1:p.Thr23853=
XM_024453095.1:c.71556T>C (TTN)	XP_024308863.1:p.Thr23852=
XM_024453096.1:c.70989T>C (TTN)	XP_024308864.1:p.Thr23663=
XM_024453097.1:c.68331T>C (TTN)	XP_024308865.1:p.Thr22777=
XM_024453098.1:c.68250T>C (TTN)	XP_024308866.1:p.Thr22750=
XM_024453099.1:c.50013T>C (TTN)	XP_024308867.1:p.Thr16671=
XM_024453100.1:c.39867T>C (TTN)	XP_024308868.1:p.Thr13289=