Canonical Allele Identifier: CA349510704

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1699816128
• gnomAD v4: 2-178552455-C-T
• MyVariant Identifiers: chr2:g.179417182C>T (hg19) ; chr2:g.178552455C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552455C>T , CM000664.2:g.178552455C>T	GRCh38
NC_000002.11:g.179417182C>T , CM000664.1:g.179417182C>T	GRCh37
NC_000002.10:g.179125428C>T	NCBI36
NG_011618.3:g.283348G>A , LRG_391:g.283348G>A
NG_051363.1:g.34629C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.82741G>A (TTN)	ENSP00000343764.6:p.Val27581Met
ENST00000342175.11:c.63826G>A (TTN)	ENSP00000340554.6:p.Val21276Met
ENST00000359218.10:c.63625G>A (TTN)	ENSP00000352154.5:p.Val21209Met
ENST00000342175.10:c.63826G>A (TTN)	ENSP00000340554.6:p.Val21276Met
ENST00000342992.10:c.82741G>A (TTN)	ENSP00000343764.6:p.Val27581Met
ENST00000359218.9:c.63625G>A (TTN)	ENSP00000352154.5:p.Val21209Met
ENST00000460472.6:c.63250G>A (TTN)	ENSP00000434586.1:p.Val21084Met
ENST00000589042.5:c.90445G>A (TTN) MANE Select	ENSP00000467141.1:p.Val30149Met
ENST00000591111.5:c.85522G>A (TTN)	ENSP00000465570.1:p.Val28508Met
ENST00000615779.4:c.85522G>A (TTN)	ENSP00000483597.1:p.Val28508Met
NM_001256850.1:c.85522G>A (TTN)	NP_001243779.1:p.Val28508Met
NM_001267550.2:c.90445G>A (TTN) MANE Select	NP_001254479.2:p.Val30149Met
NM_003319.4:c.63250G>A (TTN)	NP_003310.4:p.Val21084Met
NM_133378.4:c.82741G>A (TTN)	NP_596869.4:p.Val27581Met
NM_133432.3:c.63625G>A (TTN)	NP_597676.3:p.Val21209Met
NM_133437.4:c.63826G>A (TTN)	NP_597681.4:p.Val21276Met
NR_038271.1:n.447-18845C>T (TTN-AS1)
NR_038272.1:n.2043+10094C>T (TTN-AS1)
XM_011511729.1:c.89542G>A (TTN)	XP_011510031.1:p.Val29848Met
XM_011511730.1:c.63436G>A (TTN)	XP_011510032.1:p.Val21146Met
XM_011511731.1:c.63295G>A (TTN)	XP_011510033.1:p.Val21099Met
XM_017004819.1:c.89338G>A (TTN)	XP_016860308.1:p.Val29780Met
XM_017004820.1:c.84736G>A (TTN)	XP_016860309.1:p.Val28246Met
XM_017004821.1:c.84733G>A (TTN)	XP_016860310.1:p.Val28245Met
XM_017004822.1:c.81775G>A (TTN)	XP_016860311.1:p.Val27259Met
XM_017004823.1:c.63391G>A (TTN)	XP_016860312.1:p.Val21131Met
XM_024453094.1:c.84886G>A (TTN)	XP_024308862.1:p.Val28296Met
XM_024453095.1:c.84883G>A (TTN)	XP_024308863.1:p.Val28295Met
XM_024453096.1:c.84316G>A (TTN)	XP_024308864.1:p.Val28106Met
XM_024453097.1:c.81658G>A (TTN)	XP_024308865.1:p.Val27220Met
XM_024453098.1:c.81577G>A (TTN)	XP_024308866.1:p.Val27193Met
XM_024453099.1:c.63340G>A (TTN)	XP_024308867.1:p.Val21114Met
XM_024453100.1:c.53194G>A (TTN)	XP_024308868.1:p.Val17732Met