Canonical Allele Identifier: CA349446088

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408029T>G (hg19) ; chr2:g.178543302T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543302T>G , CM000664.2:g.178543302T>G	GRCh38
NC_000002.11:g.179408029T>G , CM000664.1:g.179408029T>G	GRCh37
NC_000002.10:g.179116275T>G	NCBI36
NG_011618.3:g.292501A>C , LRG_391:g.292501A>C
NG_051363.1:g.25476T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88967A>C (TTN)	ENSP00000343764.6:p.Glu29656Ala
ENST00000342175.11:c.70052A>C (TTN)	ENSP00000340554.6:p.Glu23351Ala
ENST00000359218.10:c.69851A>C (TTN)	ENSP00000352154.5:p.Glu23284Ala
ENST00000342175.10:c.70052A>C (TTN)	ENSP00000340554.6:p.Glu23351Ala
ENST00000342992.10:c.88967A>C (TTN)	ENSP00000343764.6:p.Glu29656Ala
ENST00000359218.9:c.69851A>C (TTN)	ENSP00000352154.5:p.Glu23284Ala
ENST00000460472.6:c.69476A>C (TTN)	ENSP00000434586.1:p.Glu23159Ala
ENST00000589042.5:c.96671A>C (TTN) MANE Select	ENSP00000467141.1:p.Glu32224Ala
ENST00000591111.5:c.91748A>C (TTN)	ENSP00000465570.1:p.Glu30583Ala
ENST00000615779.4:c.91748A>C (TTN)	ENSP00000483597.1:p.Glu30583Ala
NM_001256850.1:c.91748A>C (TTN)	NP_001243779.1:p.Glu30583Ala
NM_001267550.2:c.96671A>C (TTN) MANE Select	NP_001254479.2:p.Glu32224Ala
NM_003319.4:c.69476A>C (TTN)	NP_003310.4:p.Glu23159Ala
NM_133378.4:c.88967A>C (TTN)	NP_596869.4:p.Glu29656Ala
NM_133432.3:c.69851A>C (TTN)	NP_597676.3:p.Glu23284Ala
NM_133437.4:c.70052A>C (TTN)	NP_597681.4:p.Glu23351Ala
NR_038271.1:n.446+19666T>G (TTN-AS1)
NR_038272.1:n.2043+941T>G (TTN-AS1)
XM_011511729.1:c.95768A>C (TTN)	XP_011510031.1:p.Glu31923Ala
XM_011511730.1:c.69662A>C (TTN)	XP_011510032.1:p.Glu23221Ala
XM_011511731.1:c.69521A>C (TTN)	XP_011510033.1:p.Glu23174Ala
XM_017004819.1:c.95564A>C (TTN)	XP_016860308.1:p.Glu31855Ala
XM_017004820.1:c.90962A>C (TTN)	XP_016860309.1:p.Glu30321Ala
XM_017004821.1:c.90959A>C (TTN)	XP_016860310.1:p.Glu30320Ala
XM_017004822.1:c.88001A>C (TTN)	XP_016860311.1:p.Glu29334Ala
XM_017004823.1:c.69617A>C (TTN)	XP_016860312.1:p.Glu23206Ala
XM_024453094.1:c.91112A>C (TTN)	XP_024308862.1:p.Glu30371Ala
XM_024453095.1:c.91109A>C (TTN)	XP_024308863.1:p.Glu30370Ala
XM_024453096.1:c.90542A>C (TTN)	XP_024308864.1:p.Glu30181Ala
XM_024453097.1:c.87884A>C (TTN)	XP_024308865.1:p.Glu29295Ala
XM_024453098.1:c.87803A>C (TTN)	XP_024308866.1:p.Glu29268Ala
XM_024453099.1:c.69566A>C (TTN)	XP_024308867.1:p.Glu23189Ala
XM_024453100.1:c.59420A>C (TTN)	XP_024308868.1:p.Glu19807Ala