Canonical Allele Identifier: CA349454298

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408824A>T (hg19) ; chr2:g.178544097A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544097A>T , CM000664.2:g.178544097A>T	GRCh38
NC_000002.11:g.179408824A>T , CM000664.1:g.179408824A>T	GRCh37
NC_000002.10:g.179117070A>T	NCBI36
NG_011618.3:g.291706T>A , LRG_391:g.291706T>A
NG_051363.1:g.26271A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88343T>A (TTN)	ENSP00000343764.6:p.Leu29448His
ENST00000342175.11:c.69428T>A (TTN)	ENSP00000340554.6:p.Leu23143His
ENST00000359218.10:c.69227T>A (TTN)	ENSP00000352154.5:p.Leu23076His
ENST00000342175.10:c.69428T>A (TTN)	ENSP00000340554.6:p.Leu23143His
ENST00000342992.10:c.88343T>A (TTN)	ENSP00000343764.6:p.Leu29448His
ENST00000359218.9:c.69227T>A (TTN)	ENSP00000352154.5:p.Leu23076His
ENST00000460472.6:c.68852T>A (TTN)	ENSP00000434586.1:p.Leu22951His
ENST00000589042.5:c.96047T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu32016His
ENST00000591111.5:c.91124T>A (TTN)	ENSP00000465570.1:p.Leu30375His
ENST00000615779.4:c.91124T>A (TTN)	ENSP00000483597.1:p.Leu30375His
NM_001256850.1:c.91124T>A (TTN)	NP_001243779.1:p.Leu30375His
NM_001267550.2:c.96047T>A (TTN) MANE Select	NP_001254479.2:p.Leu32016His
NM_003319.4:c.68852T>A (TTN)	NP_003310.4:p.Leu22951His
NM_133378.4:c.88343T>A (TTN)	NP_596869.4:p.Leu29448His
NM_133432.3:c.69227T>A (TTN)	NP_597676.3:p.Leu23076His
NM_133437.4:c.69428T>A (TTN)	NP_597681.4:p.Leu23143His
NR_038271.1:n.446+20461A>T (TTN-AS1)
NR_038272.1:n.2043+1736A>T (TTN-AS1)
XM_011511729.1:c.95144T>A (TTN)	XP_011510031.1:p.Leu31715His
XM_011511730.1:c.69038T>A (TTN)	XP_011510032.1:p.Leu23013His
XM_011511731.1:c.68897T>A (TTN)	XP_011510033.1:p.Leu22966His
XM_017004819.1:c.94940T>A (TTN)	XP_016860308.1:p.Leu31647His
XM_017004820.1:c.90338T>A (TTN)	XP_016860309.1:p.Leu30113His
XM_017004821.1:c.90335T>A (TTN)	XP_016860310.1:p.Leu30112His
XM_017004822.1:c.87377T>A (TTN)	XP_016860311.1:p.Leu29126His
XM_017004823.1:c.68993T>A (TTN)	XP_016860312.1:p.Leu22998His
XM_024453094.1:c.90488T>A (TTN)	XP_024308862.1:p.Leu30163His
XM_024453095.1:c.90485T>A (TTN)	XP_024308863.1:p.Leu30162His
XM_024453096.1:c.89918T>A (TTN)	XP_024308864.1:p.Leu29973His
XM_024453097.1:c.87260T>A (TTN)	XP_024308865.1:p.Leu29087His
XM_024453098.1:c.87179T>A (TTN)	XP_024308866.1:p.Leu29060His
XM_024453099.1:c.68942T>A (TTN)	XP_024308867.1:p.Leu22981His
XM_024453100.1:c.58796T>A (TTN)	XP_024308868.1:p.Leu19599His