Canonical Allele Identifier: CA349446072

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408028T>A (hg19) ; chr2:g.178543301T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543301T>A , CM000664.2:g.178543301T>A	GRCh38
NC_000002.11:g.179408028T>A , CM000664.1:g.179408028T>A	GRCh37
NC_000002.10:g.179116274T>A	NCBI36
NG_011618.3:g.292502A>T , LRG_391:g.292502A>T
NG_051363.1:g.25475T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88968A>T (TTN)	ENSP00000343764.6:p.Glu29656Asp
ENST00000342175.11:c.70053A>T (TTN)	ENSP00000340554.6:p.Glu23351Asp
ENST00000359218.10:c.69852A>T (TTN)	ENSP00000352154.5:p.Glu23284Asp
ENST00000342175.10:c.70053A>T (TTN)	ENSP00000340554.6:p.Glu23351Asp
ENST00000342992.10:c.88968A>T (TTN)	ENSP00000343764.6:p.Glu29656Asp
ENST00000359218.9:c.69852A>T (TTN)	ENSP00000352154.5:p.Glu23284Asp
ENST00000460472.6:c.69477A>T (TTN)	ENSP00000434586.1:p.Glu23159Asp
ENST00000589042.5:c.96672A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu32224Asp
ENST00000591111.5:c.91749A>T (TTN)	ENSP00000465570.1:p.Glu30583Asp
ENST00000615779.4:c.91749A>T (TTN)	ENSP00000483597.1:p.Glu30583Asp
NM_001256850.1:c.91749A>T (TTN)	NP_001243779.1:p.Glu30583Asp
NM_001267550.2:c.96672A>T (TTN) MANE Select	NP_001254479.2:p.Glu32224Asp
NM_003319.4:c.69477A>T (TTN)	NP_003310.4:p.Glu23159Asp
NM_133378.4:c.88968A>T (TTN)	NP_596869.4:p.Glu29656Asp
NM_133432.3:c.69852A>T (TTN)	NP_597676.3:p.Glu23284Asp
NM_133437.4:c.70053A>T (TTN)	NP_597681.4:p.Glu23351Asp
NR_038271.1:n.446+19665T>A (TTN-AS1)
NR_038272.1:n.2043+940T>A (TTN-AS1)
XM_011511729.1:c.95769A>T (TTN)	XP_011510031.1:p.Glu31923Asp
XM_011511730.1:c.69663A>T (TTN)	XP_011510032.1:p.Glu23221Asp
XM_011511731.1:c.69522A>T (TTN)	XP_011510033.1:p.Glu23174Asp
XM_017004819.1:c.95565A>T (TTN)	XP_016860308.1:p.Glu31855Asp
XM_017004820.1:c.90963A>T (TTN)	XP_016860309.1:p.Glu30321Asp
XM_017004821.1:c.90960A>T (TTN)	XP_016860310.1:p.Glu30320Asp
XM_017004822.1:c.88002A>T (TTN)	XP_016860311.1:p.Glu29334Asp
XM_017004823.1:c.69618A>T (TTN)	XP_016860312.1:p.Glu23206Asp
XM_024453094.1:c.91113A>T (TTN)	XP_024308862.1:p.Glu30371Asp
XM_024453095.1:c.91110A>T (TTN)	XP_024308863.1:p.Glu30370Asp
XM_024453096.1:c.90543A>T (TTN)	XP_024308864.1:p.Glu30181Asp
XM_024453097.1:c.87885A>T (TTN)	XP_024308865.1:p.Glu29295Asp
XM_024453098.1:c.87804A>T (TTN)	XP_024308866.1:p.Glu29268Asp
XM_024453099.1:c.69567A>T (TTN)	XP_024308867.1:p.Glu23189Asp
XM_024453100.1:c.59421A>T (TTN)	XP_024308868.1:p.Glu19807Asp