Canonical Allele Identifier: CA1992583

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 467329
• ClinVar RCV Id: RCV003330777
• dbSNP Id: rs148353350
• ExAC: 2:179456714 C / T
• gnomAD v2: 2-179456714-C-T
• gnomAD v3: 2-178591987-C-T
• gnomAD v4: 2-178591987-C-T
• MyVariant Identifiers: chr2:g.179456714C>T (hg19) ; chr2:g.178591987C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591987C>T , CM000664.2:g.178591987C>T	GRCh38
NC_000002.11:g.179456714C>T , CM000664.1:g.179456714C>T	GRCh37
NC_000002.10:g.179164960C>T	NCBI36
NG_011618.3:g.243816G>A , LRG_391:g.243816G>A
NG_051363.1:g.74161C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52213G>A (TTN)	ENSP00000343764.6:p.Asp17405Asn
ENST00000342175.11:c.33298G>A (TTN)	ENSP00000340554.6:p.Asp11100Asn
ENST00000359218.10:c.33097G>A (TTN)	ENSP00000352154.5:p.Asp11033Asn
ENST00000342175.10:c.33298G>A (TTN)	ENSP00000340554.6:p.Asp11100Asn
ENST00000342992.10:c.52213G>A (TTN)	ENSP00000343764.6:p.Asp17405Asn
ENST00000359218.9:c.33097G>A (TTN)	ENSP00000352154.5:p.Asp11033Asn
ENST00000460472.6:c.32722G>A (TTN)	ENSP00000434586.1:p.Asp10908Asn
ENST00000589042.5:c.59917G>A (TTN) MANE Select	ENSP00000467141.1:p.Asp19973Asn
ENST00000591111.5:c.54994G>A (TTN)	ENSP00000465570.1:p.Asp18332Asn
ENST00000615779.4:c.54994G>A (TTN)	ENSP00000483597.1:p.Asp18332Asn
NM_001256850.1:c.54994G>A (TTN)	NP_001243779.1:p.Asp18332Asn
NM_001267550.2:c.59917G>A (TTN) MANE Select	NP_001254479.2:p.Asp19973Asn
NM_003319.4:c.32722G>A (TTN)	NP_003310.4:p.Asp10908Asn
NM_133378.4:c.52213G>A (TTN)	NP_596869.4:p.Asp17405Asn
NM_133432.3:c.33097G>A (TTN)	NP_597676.3:p.Asp11033Asn
NM_133437.4:c.33298G>A (TTN)	NP_597681.4:p.Asp11100Asn
NR_038271.1:n.597-5609C>T (TTN-AS1)
NR_038272.1:n.3364+673C>T (TTN-AS1)
XM_011511729.1:c.59014G>A (TTN)	XP_011510031.1:p.Asp19672Asn
XM_011511730.1:c.32908G>A (TTN)	XP_011510032.1:p.Asp10970Asn
XM_011511731.1:c.32767G>A (TTN)	XP_011510033.1:p.Asp10923Asn
XM_017004819.1:c.58810G>A (TTN)	XP_016860308.1:p.Asp19604Asn
XM_017004820.1:c.54208G>A (TTN)	XP_016860309.1:p.Asp18070Asn
XM_017004821.1:c.54205G>A (TTN)	XP_016860310.1:p.Asp18069Asn
XM_017004822.1:c.51247G>A (TTN)	XP_016860311.1:p.Asp17083Asn
XM_017004823.1:c.32863G>A (TTN)	XP_016860312.1:p.Asp10955Asn
XM_024453094.1:c.54358G>A (TTN)	XP_024308862.1:p.Asp18120Asn
XM_024453095.1:c.54355G>A (TTN)	XP_024308863.1:p.Asp18119Asn
XM_024453096.1:c.53788G>A (TTN)	XP_024308864.1:p.Asp17930Asn
XM_024453097.1:c.51130G>A (TTN)	XP_024308865.1:p.Asp17044Asn
XM_024453098.1:c.51049G>A (TTN)	XP_024308866.1:p.Asp17017Asn
XM_024453099.1:c.32812G>A (TTN)	XP_024308867.1:p.Asp10938Asn
XM_024453100.1:c.22666G>A (TTN)	XP_024308868.1:p.Asp7556Asn