Canonical Allele Identifier: CA349519067

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179418376T>A (hg19) ; chr2:g.178553649T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178553649T>A , CM000664.2:g.178553649T>A	GRCh38
NC_000002.11:g.179418376T>A , CM000664.1:g.179418376T>A	GRCh37
NC_000002.10:g.179126622T>A	NCBI36
NG_011618.3:g.282154A>T , LRG_391:g.282154A>T
NG_051363.1:g.35823T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.81652A>T (TTN)	ENSP00000343764.6:p.Thr27218Ser
ENST00000342175.11:c.62737A>T (TTN)	ENSP00000340554.6:p.Thr20913Ser
ENST00000359218.10:c.62536A>T (TTN)	ENSP00000352154.5:p.Thr20846Ser
ENST00000342175.10:c.62737A>T (TTN)	ENSP00000340554.6:p.Thr20913Ser
ENST00000342992.10:c.81652A>T (TTN)	ENSP00000343764.6:p.Thr27218Ser
ENST00000359218.9:c.62536A>T (TTN)	ENSP00000352154.5:p.Thr20846Ser
ENST00000460472.6:c.62161A>T (TTN)	ENSP00000434586.1:p.Thr20721Ser
ENST00000589042.5:c.89356A>T (TTN) MANE Select	ENSP00000467141.1:p.Thr29786Ser
ENST00000591111.5:c.84433A>T (TTN)	ENSP00000465570.1:p.Thr28145Ser
ENST00000615779.4:c.84433A>T (TTN)	ENSP00000483597.1:p.Thr28145Ser
NM_001256850.1:c.84433A>T (TTN)	NP_001243779.1:p.Thr28145Ser
NM_001267550.2:c.89356A>T (TTN) MANE Select	NP_001254479.2:p.Thr29786Ser
NM_003319.4:c.62161A>T (TTN)	NP_003310.4:p.Thr20721Ser
NM_133378.4:c.81652A>T (TTN)	NP_596869.4:p.Thr27218Ser
NM_133432.3:c.62536A>T (TTN)	NP_597676.3:p.Thr20846Ser
NM_133437.4:c.62737A>T (TTN)	NP_597681.4:p.Thr20913Ser
NR_038271.1:n.447-17651T>A (TTN-AS1)
NR_038272.1:n.2043+11288T>A (TTN-AS1)
XM_011511729.1:c.88453A>T (TTN)	XP_011510031.1:p.Thr29485Ser
XM_011511730.1:c.62347A>T (TTN)	XP_011510032.1:p.Thr20783Ser
XM_011511731.1:c.62206A>T (TTN)	XP_011510033.1:p.Thr20736Ser
XM_017004819.1:c.88249A>T (TTN)	XP_016860308.1:p.Thr29417Ser
XM_017004820.1:c.83647A>T (TTN)	XP_016860309.1:p.Thr27883Ser
XM_017004821.1:c.83644A>T (TTN)	XP_016860310.1:p.Thr27882Ser
XM_017004822.1:c.80686A>T (TTN)	XP_016860311.1:p.Thr26896Ser
XM_017004823.1:c.62302A>T (TTN)	XP_016860312.1:p.Thr20768Ser
XM_024453094.1:c.83797A>T (TTN)	XP_024308862.1:p.Thr27933Ser
XM_024453095.1:c.83794A>T (TTN)	XP_024308863.1:p.Thr27932Ser
XM_024453096.1:c.83227A>T (TTN)	XP_024308864.1:p.Thr27743Ser
XM_024453097.1:c.80569A>T (TTN)	XP_024308865.1:p.Thr26857Ser
XM_024453098.1:c.80488A>T (TTN)	XP_024308866.1:p.Thr26830Ser
XM_024453099.1:c.62251A>T (TTN)	XP_024308867.1:p.Thr20751Ser
XM_024453100.1:c.52105A>T (TTN)	XP_024308868.1:p.Thr17369Ser