Canonical Allele Identifier: CA1987669

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 699146
• ClinVar RCV Id: RCV001446492 ; RCV002363237
• dbSNP Id: rs749651870
• ExAC: 2:179416409 G / A
• gnomAD v2: 2-179416409-G-A
• gnomAD v3: 2-178551682-G-A
• gnomAD v4: 2-178551682-G-A
• MyVariant Identifiers: chr2:g.179416409G>A (hg19) ; chr2:g.178551682G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551682G>A , CM000664.2:g.178551682G>A	GRCh38
NC_000002.11:g.179416409G>A , CM000664.1:g.179416409G>A	GRCh37
NC_000002.10:g.179124655G>A	NCBI36
NG_011618.3:g.284121C>T , LRG_391:g.284121C>T
NG_051363.1:g.33856G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83514C>T (TTN)	ENSP00000343764.6:p.Gly27838=
ENST00000342175.11:c.64599C>T (TTN)	ENSP00000340554.6:p.Gly21533=
ENST00000359218.10:c.64398C>T (TTN)	ENSP00000352154.5:p.Gly21466=
ENST00000342175.10:c.64599C>T (TTN)	ENSP00000340554.6:p.Gly21533=
ENST00000342992.10:c.83514C>T (TTN)	ENSP00000343764.6:p.Gly27838=
ENST00000359218.9:c.64398C>T (TTN)	ENSP00000352154.5:p.Gly21466=
ENST00000460472.6:c.64023C>T (TTN)	ENSP00000434586.1:p.Gly21341=
ENST00000589042.5:c.91218C>T (TTN) MANE Select	ENSP00000467141.1:p.Gly30406=
ENST00000591111.5:c.86295C>T (TTN)	ENSP00000465570.1:p.Gly28765=
ENST00000615779.4:c.86295C>T (TTN)	ENSP00000483597.1:p.Gly28765=
NM_001256850.1:c.86295C>T (TTN)	NP_001243779.1:p.Gly28765=
NM_001267550.2:c.91218C>T (TTN) MANE Select	NP_001254479.2:p.Gly30406=
NM_003319.4:c.64023C>T (TTN)	NP_003310.4:p.Gly21341=
NM_133378.4:c.83514C>T (TTN)	NP_596869.4:p.Gly27838=
NM_133432.3:c.64398C>T (TTN)	NP_597676.3:p.Gly21466=
NM_133437.4:c.64599C>T (TTN)	NP_597681.4:p.Gly21533=
NR_038271.1:n.447-19618G>A (TTN-AS1)
NR_038272.1:n.2043+9321G>A (TTN-AS1)
XM_011511729.1:c.90315C>T (TTN)	XP_011510031.1:p.Gly30105=
XM_011511730.1:c.64209C>T (TTN)	XP_011510032.1:p.Gly21403=
XM_011511731.1:c.64068C>T (TTN)	XP_011510033.1:p.Gly21356=
XM_017004819.1:c.90111C>T (TTN)	XP_016860308.1:p.Gly30037=
XM_017004820.1:c.85509C>T (TTN)	XP_016860309.1:p.Gly28503=
XM_017004821.1:c.85506C>T (TTN)	XP_016860310.1:p.Gly28502=
XM_017004822.1:c.82548C>T (TTN)	XP_016860311.1:p.Gly27516=
XM_017004823.1:c.64164C>T (TTN)	XP_016860312.1:p.Gly21388=
XM_024453094.1:c.85659C>T (TTN)	XP_024308862.1:p.Gly28553=
XM_024453095.1:c.85656C>T (TTN)	XP_024308863.1:p.Gly28552=
XM_024453096.1:c.85089C>T (TTN)	XP_024308864.1:p.Gly28363=
XM_024453097.1:c.82431C>T (TTN)	XP_024308865.1:p.Gly27477=
XM_024453098.1:c.82350C>T (TTN)	XP_024308866.1:p.Gly27450=
XM_024453099.1:c.64113C>T (TTN)	XP_024308867.1:p.Gly21371=
XM_024453100.1:c.53967C>T (TTN)	XP_024308868.1:p.Gly17989=