Canonical Allele Identifier: CA349645619

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179495054A>C (hg19) ; chr2:g.178630327A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630327A>C , CM000664.2:g.178630327A>C	GRCh38
NC_000002.11:g.179495054A>C , CM000664.1:g.179495054A>C	GRCh37
NC_000002.10:g.179203299A>C	NCBI36
NG_011618.3:g.205476T>G , LRG_391:g.205476T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36491T>G	ENSP00000343764.6:p.Val12164Gly
ENST00000342175.11:c.17576T>G	ENSP00000340554.6:p.Val5859Gly
ENST00000359218.10:c.17375T>G	ENSP00000352154.5:p.Val5792Gly
ENST00000342175.10:c.17576T>G	ENSP00000340554.6:p.Val5859Gly
ENST00000342992.10:c.36491T>G	ENSP00000343764.6:p.Val12164Gly
ENST00000359218.9:c.17375T>G	ENSP00000352154.5:p.Val5792Gly
ENST00000460472.6:c.17000T>G	ENSP00000434586.1:p.Val5667Gly
ENST00000589042.5:c.44195T>G MANE Select	ENSP00000467141.1:p.Val14732Gly
ENST00000591111.5:c.39272T>G	ENSP00000465570.1:p.Val13091Gly
ENST00000615779.4:c.39272T>G	ENSP00000483597.1:p.Val13091Gly
NM_001256850.1:c.39272T>G	NP_001243779.1:p.Val13091Gly
NM_001267550.2:c.44195T>G MANE Select	NP_001254479.2:p.Val14732Gly
NM_003319.4:c.17000T>G	NP_003310.4:p.Val5667Gly
NM_133378.4:c.36491T>G	NP_596869.4:p.Val12164Gly
NM_133432.3:c.17375T>G	NP_597676.3:p.Val5792Gly
NM_133437.4:c.17576T>G	NP_597681.4:p.Val5859Gly
XM_011511729.1:c.43292T>G	XP_011510031.1:p.Val14431Gly
XM_011511730.1:c.17186T>G	XP_011510032.1:p.Val5729Gly
XM_011511731.1:c.17045T>G	XP_011510033.1:p.Val5682Gly
XM_017004819.1:c.43088T>G	XP_016860308.1:p.Val14363Gly
XM_017004820.1:c.38486T>G	XP_016860309.1:p.Val12829Gly
XM_017004821.1:c.38483T>G	XP_016860310.1:p.Val12828Gly
XM_017004822.1:c.35525T>G	XP_016860311.1:p.Val11842Gly
XM_017004823.1:c.17141T>G	XP_016860312.1:p.Val5714Gly
XM_024453094.1:c.38636T>G	XP_024308862.1:p.Val12879Gly
XM_024453095.1:c.38633T>G	XP_024308863.1:p.Val12878Gly
XM_024453096.1:c.38066T>G	XP_024308864.1:p.Val12689Gly
XM_024453097.1:c.35408T>G	XP_024308865.1:p.Val11803Gly
XM_024453098.1:c.35327T>G	XP_024308866.1:p.Val11776Gly
XM_024453099.1:c.17090T>G	XP_024308867.1:p.Val5697Gly
XM_024453100.1:c.6944T>G	XP_024308868.1:p.Val2315Gly