Canonical Allele Identifier: CA349616278

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1427806281
• gnomAD v2: 2-179434603-C-T
• gnomAD v4: 2-178569876-C-T
• MyVariant Identifiers: chr2:g.179434603C>T (hg19) ; chr2:g.178569876C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569876C>T , CM000664.2:g.178569876C>T	GRCh38
NC_000002.11:g.179434603C>T , CM000664.1:g.179434603C>T	GRCh37
NC_000002.10:g.179142849C>T	NCBI36
NG_011618.3:g.265927G>A , LRG_391:g.265927G>A
NG_051363.1:g.52050C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.68552G>A (TTN)	ENSP00000343764.6:p.Arg22851Lys
ENST00000342175.11:c.49637G>A (TTN)	ENSP00000340554.6:p.Arg16546Lys
ENST00000359218.10:c.49436G>A (TTN)	ENSP00000352154.5:p.Arg16479Lys
ENST00000342175.10:c.49637G>A (TTN)	ENSP00000340554.6:p.Arg16546Lys
ENST00000342992.10:c.68552G>A (TTN)	ENSP00000343764.6:p.Arg22851Lys
ENST00000359218.9:c.49436G>A (TTN)	ENSP00000352154.5:p.Arg16479Lys
ENST00000460472.6:c.49061G>A (TTN)	ENSP00000434586.1:p.Arg16354Lys
ENST00000589042.5:c.76256G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg25419Lys
ENST00000591111.5:c.71333G>A (TTN)	ENSP00000465570.1:p.Arg23778Lys
ENST00000615779.4:c.71333G>A (TTN)	ENSP00000483597.1:p.Arg23778Lys
NM_001256850.1:c.71333G>A (TTN)	NP_001243779.1:p.Arg23778Lys
NM_001267550.2:c.76256G>A (TTN) MANE Select	NP_001254479.2:p.Arg25419Lys
NM_003319.4:c.49061G>A (TTN)	NP_003310.4:p.Arg16354Lys
NM_133378.4:c.68552G>A (TTN)	NP_596869.4:p.Arg22851Lys
NM_133432.3:c.49436G>A (TTN)	NP_597676.3:p.Arg16479Lys
NM_133437.4:c.49637G>A (TTN)	NP_597681.4:p.Arg16546Lys
NR_038271.1:n.447-1424C>T (TTN-AS1)
NR_038272.1:n.2044-12696C>T (TTN-AS1)
XM_011511729.1:c.75353G>A (TTN)	XP_011510031.1:p.Arg25118Lys
XM_011511730.1:c.49247G>A (TTN)	XP_011510032.1:p.Arg16416Lys
XM_011511731.1:c.49106G>A (TTN)	XP_011510033.1:p.Arg16369Lys
XM_017004819.1:c.75149G>A (TTN)	XP_016860308.1:p.Arg25050Lys
XM_017004820.1:c.70547G>A (TTN)	XP_016860309.1:p.Arg23516Lys
XM_017004821.1:c.70544G>A (TTN)	XP_016860310.1:p.Arg23515Lys
XM_017004822.1:c.67586G>A (TTN)	XP_016860311.1:p.Arg22529Lys
XM_017004823.1:c.49202G>A (TTN)	XP_016860312.1:p.Arg16401Lys
XM_024453094.1:c.70697G>A (TTN)	XP_024308862.1:p.Arg23566Lys
XM_024453095.1:c.70694G>A (TTN)	XP_024308863.1:p.Arg23565Lys
XM_024453096.1:c.70127G>A (TTN)	XP_024308864.1:p.Arg23376Lys
XM_024453097.1:c.67469G>A (TTN)	XP_024308865.1:p.Arg22490Lys
XM_024453098.1:c.67388G>A (TTN)	XP_024308866.1:p.Arg22463Lys
XM_024453099.1:c.49151G>A (TTN)	XP_024308867.1:p.Arg16384Lys
XM_024453100.1:c.39005G>A (TTN)	XP_024308868.1:p.Arg13002Lys