Canonical Allele Identifier: CA349581315

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs778385749
• gnomAD v2: 2-179429333-G-T
• gnomAD v4: 2-178564606-G-T
• MyVariant Identifiers: chr2:g.179429333G>T (hg19) ; chr2:g.178564606G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564606G>T , CM000664.2:g.178564606G>T	GRCh38
NC_000002.11:g.179429333G>T , CM000664.1:g.179429333G>T	GRCh37
NC_000002.10:g.179137579G>T	NCBI36
NG_011618.3:g.271197C>A , LRG_391:g.271197C>A
NG_051363.1:g.46780G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73822C>A (TTN)	ENSP00000343764.6:p.Arg24608Ser
ENST00000342175.11:c.54907C>A (TTN)	ENSP00000340554.6:p.Arg18303Ser
ENST00000359218.10:c.54706C>A (TTN)	ENSP00000352154.5:p.Arg18236Ser
ENST00000342175.10:c.54907C>A (TTN)	ENSP00000340554.6:p.Arg18303Ser
ENST00000342992.10:c.73822C>A (TTN)	ENSP00000343764.6:p.Arg24608Ser
ENST00000359218.9:c.54706C>A (TTN)	ENSP00000352154.5:p.Arg18236Ser
ENST00000460472.6:c.54331C>A (TTN)	ENSP00000434586.1:p.Arg18111Ser
ENST00000589042.5:c.81526C>A (TTN) MANE Select	ENSP00000467141.1:p.Arg27176Ser
ENST00000591111.5:c.76603C>A (TTN)	ENSP00000465570.1:p.Arg25535Ser
ENST00000615779.4:c.76603C>A (TTN)	ENSP00000483597.1:p.Arg25535Ser
NM_001256850.1:c.76603C>A (TTN)	NP_001243779.1:p.Arg25535Ser
NM_001267550.2:c.81526C>A (TTN) MANE Select	NP_001254479.2:p.Arg27176Ser
NM_003319.4:c.54331C>A (TTN)	NP_003310.4:p.Arg18111Ser
NM_133378.4:c.73822C>A (TTN)	NP_596869.4:p.Arg24608Ser
NM_133432.3:c.54706C>A (TTN)	NP_597676.3:p.Arg18236Ser
NM_133437.4:c.54907C>A (TTN)	NP_597681.4:p.Arg18303Ser
NR_038271.1:n.447-6694G>T (TTN-AS1)
NR_038272.1:n.2044-17966G>T (TTN-AS1)
XM_011511729.1:c.80623C>A (TTN)	XP_011510031.1:p.Arg26875Ser
XM_011511730.1:c.54517C>A (TTN)	XP_011510032.1:p.Arg18173Ser
XM_011511731.1:c.54376C>A (TTN)	XP_011510033.1:p.Arg18126Ser
XM_017004819.1:c.80419C>A (TTN)	XP_016860308.1:p.Arg26807Ser
XM_017004820.1:c.75817C>A (TTN)	XP_016860309.1:p.Arg25273Ser
XM_017004821.1:c.75814C>A (TTN)	XP_016860310.1:p.Arg25272Ser
XM_017004822.1:c.72856C>A (TTN)	XP_016860311.1:p.Arg24286Ser
XM_017004823.1:c.54472C>A (TTN)	XP_016860312.1:p.Arg18158Ser
XM_024453094.1:c.75967C>A (TTN)	XP_024308862.1:p.Arg25323Ser
XM_024453095.1:c.75964C>A (TTN)	XP_024308863.1:p.Arg25322Ser
XM_024453096.1:c.75397C>A (TTN)	XP_024308864.1:p.Arg25133Ser
XM_024453097.1:c.72739C>A (TTN)	XP_024308865.1:p.Arg24247Ser
XM_024453098.1:c.72658C>A (TTN)	XP_024308866.1:p.Arg24220Ser
XM_024453099.1:c.54421C>A (TTN)	XP_024308867.1:p.Arg18141Ser
XM_024453100.1:c.44275C>A (TTN)	XP_024308868.1:p.Arg14759Ser