Canonical Allele Identifier: CA1995724

Gene: TTN

Linked Data

• dbSNP Id: rs774485726
• ExAC: 2:179495063 T / C
• gnomAD v2: 2-179495063-T-C
• gnomAD v4: 2-178630336-T-C
• MyVariant Identifiers: chr2:g.179495063T>C (hg19) ; chr2:g.178630336T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630336T>C , CM000664.2:g.178630336T>C	GRCh38
NC_000002.11:g.179495063T>C , CM000664.1:g.179495063T>C	GRCh37
NC_000002.10:g.179203308T>C	NCBI36
NG_011618.3:g.205467A>G , LRG_391:g.205467A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36482A>G	ENSP00000343764.6:p.His12161Arg
ENST00000342175.11:c.17567A>G	ENSP00000340554.6:p.His5856Arg
ENST00000359218.10:c.17366A>G	ENSP00000352154.5:p.His5789Arg
ENST00000342175.10:c.17567A>G	ENSP00000340554.6:p.His5856Arg
ENST00000342992.10:c.36482A>G	ENSP00000343764.6:p.His12161Arg
ENST00000359218.9:c.17366A>G	ENSP00000352154.5:p.His5789Arg
ENST00000460472.6:c.16991A>G	ENSP00000434586.1:p.His5664Arg
ENST00000589042.5:c.44186A>G MANE Select	ENSP00000467141.1:p.His14729Arg
ENST00000591111.5:c.39263A>G	ENSP00000465570.1:p.His13088Arg
ENST00000615779.4:c.39263A>G	ENSP00000483597.1:p.His13088Arg
NM_001256850.1:c.39263A>G	NP_001243779.1:p.His13088Arg
NM_001267550.2:c.44186A>G MANE Select	NP_001254479.2:p.His14729Arg
NM_003319.4:c.16991A>G	NP_003310.4:p.His5664Arg
NM_133378.4:c.36482A>G	NP_596869.4:p.His12161Arg
NM_133432.3:c.17366A>G	NP_597676.3:p.His5789Arg
NM_133437.4:c.17567A>G	NP_597681.4:p.His5856Arg
XM_011511729.1:c.43283A>G	XP_011510031.1:p.His14428Arg
XM_011511730.1:c.17177A>G	XP_011510032.1:p.His5726Arg
XM_011511731.1:c.17036A>G	XP_011510033.1:p.His5679Arg
XM_017004819.1:c.43079A>G	XP_016860308.1:p.His14360Arg
XM_017004820.1:c.38477A>G	XP_016860309.1:p.His12826Arg
XM_017004821.1:c.38474A>G	XP_016860310.1:p.His12825Arg
XM_017004822.1:c.35516A>G	XP_016860311.1:p.His11839Arg
XM_017004823.1:c.17132A>G	XP_016860312.1:p.His5711Arg
XM_024453094.1:c.38627A>G	XP_024308862.1:p.His12876Arg
XM_024453095.1:c.38624A>G	XP_024308863.1:p.His12875Arg
XM_024453096.1:c.38057A>G	XP_024308864.1:p.His12686Arg
XM_024453097.1:c.35399A>G	XP_024308865.1:p.His11800Arg
XM_024453098.1:c.35318A>G	XP_024308866.1:p.His11773Arg
XM_024453099.1:c.17081A>G	XP_024308867.1:p.His5694Arg
XM_024453100.1:c.6935A>G	XP_024308868.1:p.His2312Arg