Canonical Allele Identifier: CA349483579

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179455841A>C (hg19) ; chr2:g.178591114A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591114A>C , CM000664.2:g.178591114A>C	GRCh38
NC_000002.11:g.179455841A>C , CM000664.1:g.179455841A>C	GRCh37
NC_000002.10:g.179164087A>C	NCBI36
NG_011618.3:g.244689T>G , LRG_391:g.244689T>G
NG_051363.1:g.73288A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52907T>G (TTN)	ENSP00000343764.6:p.Val17636Gly
ENST00000342175.11:c.33992T>G (TTN)	ENSP00000340554.6:p.Val11331Gly
ENST00000359218.10:c.33791T>G (TTN)	ENSP00000352154.5:p.Val11264Gly
ENST00000342175.10:c.33992T>G (TTN)	ENSP00000340554.6:p.Val11331Gly
ENST00000342992.10:c.52907T>G (TTN)	ENSP00000343764.6:p.Val17636Gly
ENST00000359218.9:c.33791T>G (TTN)	ENSP00000352154.5:p.Val11264Gly
ENST00000460472.6:c.33416T>G (TTN)	ENSP00000434586.1:p.Val11139Gly
ENST00000589042.5:c.60611T>G (TTN) MANE Select	ENSP00000467141.1:p.Val20204Gly
ENST00000591111.5:c.55688T>G (TTN)	ENSP00000465570.1:p.Val18563Gly
ENST00000615779.4:c.55688T>G (TTN)	ENSP00000483597.1:p.Val18563Gly
NM_001256850.1:c.55688T>G (TTN)	NP_001243779.1:p.Val18563Gly
NM_001267550.2:c.60611T>G (TTN) MANE Select	NP_001254479.2:p.Val20204Gly
NM_003319.4:c.33416T>G (TTN)	NP_003310.4:p.Val11139Gly
NM_133378.4:c.52907T>G (TTN)	NP_596869.4:p.Val17636Gly
NM_133432.3:c.33791T>G (TTN)	NP_597676.3:p.Val11264Gly
NM_133437.4:c.33992T>G (TTN)	NP_597681.4:p.Val11331Gly
NR_038271.1:n.597-6482A>C (TTN-AS1)
NR_038272.1:n.3189-25A>C (TTN-AS1)
XM_011511729.1:c.59708T>G (TTN)	XP_011510031.1:p.Val19903Gly
XM_011511730.1:c.33602T>G (TTN)	XP_011510032.1:p.Val11201Gly
XM_011511731.1:c.33461T>G (TTN)	XP_011510033.1:p.Val11154Gly
XM_017004819.1:c.59504T>G (TTN)	XP_016860308.1:p.Val19835Gly
XM_017004820.1:c.54902T>G (TTN)	XP_016860309.1:p.Val18301Gly
XM_017004821.1:c.54899T>G (TTN)	XP_016860310.1:p.Val18300Gly
XM_017004822.1:c.51941T>G (TTN)	XP_016860311.1:p.Val17314Gly
XM_017004823.1:c.33557T>G (TTN)	XP_016860312.1:p.Val11186Gly
XM_024453094.1:c.55052T>G (TTN)	XP_024308862.1:p.Val18351Gly
XM_024453095.1:c.55049T>G (TTN)	XP_024308863.1:p.Val18350Gly
XM_024453096.1:c.54482T>G (TTN)	XP_024308864.1:p.Val18161Gly
XM_024453097.1:c.51824T>G (TTN)	XP_024308865.1:p.Val17275Gly
XM_024453098.1:c.51743T>G (TTN)	XP_024308866.1:p.Val17248Gly
XM_024453099.1:c.33506T>G (TTN)	XP_024308867.1:p.Val11169Gly
XM_024453100.1:c.23360T>G (TTN)	XP_024308868.1:p.Val7787Gly