Canonical Allele Identifier: CA349450192

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1695786003
• gnomAD v3: 2-178543836-T-C
• gnomAD v4: 2-178543836-T-C
• MyVariant Identifiers: chr2:g.179408563T>C (hg19) ; chr2:g.178543836T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543836T>C , CM000664.2:g.178543836T>C	GRCh38
NC_000002.11:g.179408563T>C , CM000664.1:g.179408563T>C	GRCh37
NC_000002.10:g.179116809T>C	NCBI36
NG_011618.3:g.291967A>G , LRG_391:g.291967A>G
NG_051363.1:g.26010T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88604A>G (TTN)	ENSP00000343764.6:p.Tyr29535Cys
ENST00000342175.11:c.69689A>G (TTN)	ENSP00000340554.6:p.Tyr23230Cys
ENST00000359218.10:c.69488A>G (TTN)	ENSP00000352154.5:p.Tyr23163Cys
ENST00000342175.10:c.69689A>G (TTN)	ENSP00000340554.6:p.Tyr23230Cys
ENST00000342992.10:c.88604A>G (TTN)	ENSP00000343764.6:p.Tyr29535Cys
ENST00000359218.9:c.69488A>G (TTN)	ENSP00000352154.5:p.Tyr23163Cys
ENST00000460472.6:c.69113A>G (TTN)	ENSP00000434586.1:p.Tyr23038Cys
ENST00000589042.5:c.96308A>G (TTN) MANE Select	ENSP00000467141.1:p.Tyr32103Cys
ENST00000591111.5:c.91385A>G (TTN)	ENSP00000465570.1:p.Tyr30462Cys
ENST00000615779.4:c.91385A>G (TTN)	ENSP00000483597.1:p.Tyr30462Cys
NM_001256850.1:c.91385A>G (TTN)	NP_001243779.1:p.Tyr30462Cys
NM_001267550.2:c.96308A>G (TTN) MANE Select	NP_001254479.2:p.Tyr32103Cys
NM_003319.4:c.69113A>G (TTN)	NP_003310.4:p.Tyr23038Cys
NM_133378.4:c.88604A>G (TTN)	NP_596869.4:p.Tyr29535Cys
NM_133432.3:c.69488A>G (TTN)	NP_597676.3:p.Tyr23163Cys
NM_133437.4:c.69689A>G (TTN)	NP_597681.4:p.Tyr23230Cys
NR_038271.1:n.446+20200T>C (TTN-AS1)
NR_038272.1:n.2043+1475T>C (TTN-AS1)
XM_011511729.1:c.95405A>G (TTN)	XP_011510031.1:p.Tyr31802Cys
XM_011511730.1:c.69299A>G (TTN)	XP_011510032.1:p.Tyr23100Cys
XM_011511731.1:c.69158A>G (TTN)	XP_011510033.1:p.Tyr23053Cys
XM_017004819.1:c.95201A>G (TTN)	XP_016860308.1:p.Tyr31734Cys
XM_017004820.1:c.90599A>G (TTN)	XP_016860309.1:p.Tyr30200Cys
XM_017004821.1:c.90596A>G (TTN)	XP_016860310.1:p.Tyr30199Cys
XM_017004822.1:c.87638A>G (TTN)	XP_016860311.1:p.Tyr29213Cys
XM_017004823.1:c.69254A>G (TTN)	XP_016860312.1:p.Tyr23085Cys
XM_024453094.1:c.90749A>G (TTN)	XP_024308862.1:p.Tyr30250Cys
XM_024453095.1:c.90746A>G (TTN)	XP_024308863.1:p.Tyr30249Cys
XM_024453096.1:c.90179A>G (TTN)	XP_024308864.1:p.Tyr30060Cys
XM_024453097.1:c.87521A>G (TTN)	XP_024308865.1:p.Tyr29174Cys
XM_024453098.1:c.87440A>G (TTN)	XP_024308866.1:p.Tyr29147Cys
XM_024453099.1:c.69203A>G (TTN)	XP_024308867.1:p.Tyr23068Cys
XM_024453100.1:c.59057A>G (TTN)	XP_024308868.1:p.Tyr19686Cys