Canonical Allele Identifier: CA349411768

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2085391
• ClinVar RCV Id: RCV002996247
• dbSNP Id: rs1689428515
• MyVariant Identifiers: chr2:g.179396920C>T (hg19) ; chr2:g.178532193C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532193C>T , CM000664.2:g.178532193C>T	GRCh38
NC_000002.11:g.179396920C>T , CM000664.1:g.179396920C>T	GRCh37
NC_000002.10:g.179105166C>T	NCBI36
NG_011618.3:g.303610G>A , LRG_391:g.303610G>A
NG_051363.1:g.14367C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96718G>A (TTN)	ENSP00000343764.6:p.Glu32240Lys
ENST00000342175.11:c.77803G>A (TTN)	ENSP00000340554.6:p.Glu25935Lys
ENST00000359218.10:c.77602G>A (TTN)	ENSP00000352154.5:p.Glu25868Lys
ENST00000342175.10:c.77803G>A (TTN)	ENSP00000340554.6:p.Glu25935Lys
ENST00000342992.10:c.96718G>A (TTN)	ENSP00000343764.6:p.Glu32240Lys
ENST00000359218.9:c.77602G>A (TTN)	ENSP00000352154.5:p.Glu25868Lys
ENST00000460472.6:c.77227G>A (TTN)	ENSP00000434586.1:p.Glu25743Lys
ENST00000589042.5:c.104422G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu34808Lys
ENST00000591111.5:c.99499G>A (TTN)	ENSP00000465570.1:p.Glu33167Lys
ENST00000615779.4:c.99499G>A (TTN)	ENSP00000483597.1:p.Glu33167Lys
NM_001256850.1:c.99499G>A (TTN)	NP_001243779.1:p.Glu33167Lys
NM_001267550.2:c.104422G>A (TTN) MANE Select	NP_001254479.2:p.Glu34808Lys
NM_003319.4:c.77227G>A (TTN)	NP_003310.4:p.Glu25743Lys
NM_133378.4:c.96718G>A (TTN)	NP_596869.4:p.Glu32240Lys
NM_133432.3:c.77602G>A (TTN)	NP_597676.3:p.Glu25868Lys
NM_133437.4:c.77803G>A (TTN)	NP_597681.4:p.Glu25935Lys
NR_038271.1:n.446+8557C>T (TTN-AS1)
NR_038272.1:n.220-3539C>T (TTN-AS1)
XM_011511729.1:c.103519G>A (TTN)	XP_011510031.1:p.Glu34507Lys
XM_011511730.1:c.77413G>A (TTN)	XP_011510032.1:p.Glu25805Lys
XM_011511731.1:c.77272G>A (TTN)	XP_011510033.1:p.Glu25758Lys
XM_017004819.1:c.103315G>A (TTN)	XP_016860308.1:p.Glu34439Lys
XM_017004820.1:c.98713G>A (TTN)	XP_016860309.1:p.Glu32905Lys
XM_017004821.1:c.98710G>A (TTN)	XP_016860310.1:p.Glu32904Lys
XM_017004822.1:c.95752G>A (TTN)	XP_016860311.1:p.Glu31918Lys
XM_017004823.1:c.77368G>A (TTN)	XP_016860312.1:p.Glu25790Lys
XM_024453094.1:c.98863G>A (TTN)	XP_024308862.1:p.Glu32955Lys
XM_024453095.1:c.98860G>A (TTN)	XP_024308863.1:p.Glu32954Lys
XM_024453096.1:c.98293G>A (TTN)	XP_024308864.1:p.Glu32765Lys
XM_024453097.1:c.95635G>A (TTN)	XP_024308865.1:p.Glu31879Lys
XM_024453098.1:c.95554G>A (TTN)	XP_024308866.1:p.Glu31852Lys
XM_024453099.1:c.77317G>A (TTN)	XP_024308867.1:p.Glu25773Lys
XM_024453100.1:c.67171G>A (TTN)	XP_024308868.1:p.Glu22391Lys