Canonical Allele Identifier: CA349645660

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179495063T>G (hg19) ; chr2:g.178630336T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.36482A>C	ENSP00000343764.6:p.His12161Pro
ENST00000342175.11:c.17567A>C	ENSP00000340554.6:p.His5856Pro
ENST00000359218.10:c.17366A>C	ENSP00000352154.5:p.His5789Pro
ENST00000342175.10:c.17567A>C	ENSP00000340554.6:p.His5856Pro
ENST00000342992.10:c.36482A>C	ENSP00000343764.6:p.His12161Pro
ENST00000359218.9:c.17366A>C	ENSP00000352154.5:p.His5789Pro
ENST00000460472.6:c.16991A>C	ENSP00000434586.1:p.His5664Pro
ENST00000589042.5:c.44186A>C MANE Select	ENSP00000467141.1:p.His14729Pro
ENST00000591111.5:c.39263A>C	ENSP00000465570.1:p.His13088Pro
ENST00000615779.4:c.39263A>C	ENSP00000483597.1:p.His13088Pro
NM_001256850.1:c.39263A>C	NP_001243779.1:p.His13088Pro
NM_001267550.2:c.44186A>C MANE Select	NP_001254479.2:p.His14729Pro
NM_003319.4:c.16991A>C	NP_003310.4:p.His5664Pro
NM_133378.4:c.36482A>C	NP_596869.4:p.His12161Pro
NM_133432.3:c.17366A>C	NP_597676.3:p.His5789Pro
NM_133437.4:c.17567A>C	NP_597681.4:p.His5856Pro
XM_011511729.1:c.43283A>C	XP_011510031.1:p.His14428Pro
XM_011511730.1:c.17177A>C	XP_011510032.1:p.His5726Pro
XM_011511731.1:c.17036A>C	XP_011510033.1:p.His5679Pro
XM_017004819.1:c.43079A>C	XP_016860308.1:p.His14360Pro
XM_017004820.1:c.38477A>C	XP_016860309.1:p.His12826Pro
XM_017004821.1:c.38474A>C	XP_016860310.1:p.His12825Pro
XM_017004822.1:c.35516A>C	XP_016860311.1:p.His11839Pro
XM_017004823.1:c.17132A>C	XP_016860312.1:p.His5711Pro
XM_024453094.1:c.38627A>C	XP_024308862.1:p.His12876Pro
XM_024453095.1:c.38624A>C	XP_024308863.1:p.His12875Pro
XM_024453096.1:c.38057A>C	XP_024308864.1:p.His12686Pro
XM_024453097.1:c.35399A>C	XP_024308865.1:p.His11800Pro
XM_024453098.1:c.35318A>C	XP_024308866.1:p.His11773Pro
XM_024453099.1:c.17081A>C	XP_024308867.1:p.His5694Pro
XM_024453100.1:c.6935A>C	XP_024308868.1:p.His2312Pro