Canonical Allele Identifier: CA60991185

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs866667558
• gnomAD v4: 2-178567396-C-T
• MyVariant Identifiers: chr2:g.179432123C>T (hg19) ; chr2:g.178567396C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567396C>T , CM000664.2:g.178567396C>T	GRCh38
NC_000002.11:g.179432123C>T , CM000664.1:g.179432123C>T	GRCh37
NC_000002.10:g.179140369C>T	NCBI36
NG_011618.3:g.268407G>A , LRG_391:g.268407G>A
NG_051363.1:g.49570C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71032G>A (TTN)	ENSP00000343764.6:p.Asp23678Asn
ENST00000342175.11:c.52117G>A (TTN)	ENSP00000340554.6:p.Asp17373Asn
ENST00000359218.10:c.51916G>A (TTN)	ENSP00000352154.5:p.Asp17306Asn
ENST00000342175.10:c.52117G>A (TTN)	ENSP00000340554.6:p.Asp17373Asn
ENST00000342992.10:c.71032G>A (TTN)	ENSP00000343764.6:p.Asp23678Asn
ENST00000359218.9:c.51916G>A (TTN)	ENSP00000352154.5:p.Asp17306Asn
ENST00000460472.6:c.51541G>A (TTN)	ENSP00000434586.1:p.Asp17181Asn
ENST00000589042.5:c.78736G>A (TTN) MANE Select	ENSP00000467141.1:p.Asp26246Asn
ENST00000591111.5:c.73813G>A (TTN)	ENSP00000465570.1:p.Asp24605Asn
ENST00000615779.4:c.73813G>A (TTN)	ENSP00000483597.1:p.Asp24605Asn
NM_001256850.1:c.73813G>A (TTN)	NP_001243779.1:p.Asp24605Asn
NM_001267550.2:c.78736G>A (TTN) MANE Select	NP_001254479.2:p.Asp26246Asn
NM_003319.4:c.51541G>A (TTN)	NP_003310.4:p.Asp17181Asn
NM_133378.4:c.71032G>A (TTN)	NP_596869.4:p.Asp23678Asn
NM_133432.3:c.51916G>A (TTN)	NP_597676.3:p.Asp17306Asn
NM_133437.4:c.52117G>A (TTN)	NP_597681.4:p.Asp17373Asn
NR_038271.1:n.447-3904C>T (TTN-AS1)
NR_038272.1:n.2044-15176C>T (TTN-AS1)
XM_011511729.1:c.77833G>A (TTN)	XP_011510031.1:p.Asp25945Asn
XM_011511730.1:c.51727G>A (TTN)	XP_011510032.1:p.Asp17243Asn
XM_011511731.1:c.51586G>A (TTN)	XP_011510033.1:p.Asp17196Asn
XM_017004819.1:c.77629G>A (TTN)	XP_016860308.1:p.Asp25877Asn
XM_017004820.1:c.73027G>A (TTN)	XP_016860309.1:p.Asp24343Asn
XM_017004821.1:c.73024G>A (TTN)	XP_016860310.1:p.Asp24342Asn
XM_017004822.1:c.70066G>A (TTN)	XP_016860311.1:p.Asp23356Asn
XM_017004823.1:c.51682G>A (TTN)	XP_016860312.1:p.Asp17228Asn
XM_024453094.1:c.73177G>A (TTN)	XP_024308862.1:p.Asp24393Asn
XM_024453095.1:c.73174G>A (TTN)	XP_024308863.1:p.Asp24392Asn
XM_024453096.1:c.72607G>A (TTN)	XP_024308864.1:p.Asp24203Asn
XM_024453097.1:c.69949G>A (TTN)	XP_024308865.1:p.Asp23317Asn
XM_024453098.1:c.69868G>A (TTN)	XP_024308866.1:p.Asp23290Asn
XM_024453099.1:c.51631G>A (TTN)	XP_024308867.1:p.Asp17211Asn
XM_024453100.1:c.41485G>A (TTN)	XP_024308868.1:p.Asp13829Asn