Canonical Allele Identifier: CA349429752

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1057523177
• gnomAD v3: 2-178582296-C-T
• gnomAD v4: 2-178582296-C-T
• COSMIC: COSM718327 ; COSM718328 ; COSM718329 ; COSM1148586
• MyVariant Identifiers: chr2:g.179447023C>T (hg19) ; chr2:g.178582296C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178582296C>T , CM000664.2:g.178582296C>T	GRCh38
NC_000002.11:g.179447023C>T , CM000664.1:g.179447023C>T	GRCh37
NC_000002.10:g.179155269C>T	NCBI36
NG_011618.3:g.253507G>A , LRG_391:g.253507G>A
NG_051363.1:g.64470C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.58456G>A (TTN)	ENSP00000343764.6:p.Asp19486Asn
ENST00000342175.11:c.39541G>A (TTN)	ENSP00000340554.6:p.Asp13181Asn
ENST00000359218.10:c.39340G>A (TTN)	ENSP00000352154.5:p.Asp13114Asn
ENST00000342175.10:c.39541G>A (TTN)	ENSP00000340554.6:p.Asp13181Asn
ENST00000342992.10:c.58456G>A (TTN)	ENSP00000343764.6:p.Asp19486Asn
ENST00000359218.9:c.39340G>A (TTN)	ENSP00000352154.5:p.Asp13114Asn
ENST00000460472.6:c.38965G>A (TTN)	ENSP00000434586.1:p.Asp12989Asn
ENST00000589042.5:c.66160G>A (TTN) MANE Select	ENSP00000467141.1:p.Asp22054Asn
ENST00000591111.5:c.61237G>A (TTN)	ENSP00000465570.1:p.Asp20413Asn
ENST00000615779.4:c.61237G>A (TTN)	ENSP00000483597.1:p.Asp20413Asn
NM_001256850.1:c.61237G>A (TTN)	NP_001243779.1:p.Asp20413Asn
NM_001267550.2:c.66160G>A (TTN) MANE Select	NP_001254479.2:p.Asp22054Asn
NM_003319.4:c.38965G>A (TTN)	NP_003310.4:p.Asp12989Asn
NM_133378.4:c.58456G>A (TTN)	NP_596869.4:p.Asp19486Asn
NM_133432.3:c.39340G>A (TTN)	NP_597676.3:p.Asp13114Asn
NM_133437.4:c.39541G>A (TTN)	NP_597681.4:p.Asp13181Asn
NR_038271.1:n.596+10847C>T (TTN-AS1)
NR_038272.1:n.2044-276C>T (TTN-AS1)
XM_011511729.1:c.65257G>A (TTN)	XP_011510031.1:p.Asp21753Asn
XM_011511730.1:c.39151G>A (TTN)	XP_011510032.1:p.Asp13051Asn
XM_011511731.1:c.39010G>A (TTN)	XP_011510033.1:p.Asp13004Asn
XM_017004819.1:c.65053G>A (TTN)	XP_016860308.1:p.Asp21685Asn
XM_017004820.1:c.60451G>A (TTN)	XP_016860309.1:p.Asp20151Asn
XM_017004821.1:c.60448G>A (TTN)	XP_016860310.1:p.Asp20150Asn
XM_017004822.1:c.57490G>A (TTN)	XP_016860311.1:p.Asp19164Asn
XM_017004823.1:c.39106G>A (TTN)	XP_016860312.1:p.Asp13036Asn
XM_024453094.1:c.60601G>A (TTN)	XP_024308862.1:p.Asp20201Asn
XM_024453095.1:c.60598G>A (TTN)	XP_024308863.1:p.Asp20200Asn
XM_024453096.1:c.60031G>A (TTN)	XP_024308864.1:p.Asp20011Asn
XM_024453097.1:c.57373G>A (TTN)	XP_024308865.1:p.Asp19125Asn
XM_024453098.1:c.57292G>A (TTN)	XP_024308866.1:p.Asp19098Asn
XM_024453099.1:c.39055G>A (TTN)	XP_024308867.1:p.Asp13019Asn
XM_024453100.1:c.28909G>A (TTN)	XP_024308868.1:p.Asp9637Asn