Canonical Allele Identifier: CA349488684

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179456708G>C (hg19) ; chr2:g.178591981G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591981G>C , CM000664.2:g.178591981G>C	GRCh38
NC_000002.11:g.179456708G>C , CM000664.1:g.179456708G>C	GRCh37
NC_000002.10:g.179164954G>C	NCBI36
NG_011618.3:g.243822C>G , LRG_391:g.243822C>G
NG_051363.1:g.74155G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.52219C>G (TTN)	ENSP00000343764.6:p.Leu17407Val
ENST00000342175.11:c.33304C>G (TTN)	ENSP00000340554.6:p.Leu11102Val
ENST00000359218.10:c.33103C>G (TTN)	ENSP00000352154.5:p.Leu11035Val
ENST00000342175.10:c.33304C>G (TTN)	ENSP00000340554.6:p.Leu11102Val
ENST00000342992.10:c.52219C>G (TTN)	ENSP00000343764.6:p.Leu17407Val
ENST00000359218.9:c.33103C>G (TTN)	ENSP00000352154.5:p.Leu11035Val
ENST00000460472.6:c.32728C>G (TTN)	ENSP00000434586.1:p.Leu10910Val
ENST00000589042.5:c.59923C>G (TTN) MANE Select	ENSP00000467141.1:p.Leu19975Val
ENST00000591111.5:c.55000C>G (TTN)	ENSP00000465570.1:p.Leu18334Val
ENST00000615779.4:c.55000C>G (TTN)	ENSP00000483597.1:p.Leu18334Val
NM_001256850.1:c.55000C>G (TTN)	NP_001243779.1:p.Leu18334Val
NM_001267550.2:c.59923C>G (TTN) MANE Select	NP_001254479.2:p.Leu19975Val
NM_003319.4:c.32728C>G (TTN)	NP_003310.4:p.Leu10910Val
NM_133378.4:c.52219C>G (TTN)	NP_596869.4:p.Leu17407Val
NM_133432.3:c.33103C>G (TTN)	NP_597676.3:p.Leu11035Val
NM_133437.4:c.33304C>G (TTN)	NP_597681.4:p.Leu11102Val
NR_038271.1:n.597-5615G>C (TTN-AS1)
NR_038272.1:n.3364+667G>C (TTN-AS1)
XM_011511729.1:c.59020C>G (TTN)	XP_011510031.1:p.Leu19674Val
XM_011511730.1:c.32914C>G (TTN)	XP_011510032.1:p.Leu10972Val
XM_011511731.1:c.32773C>G (TTN)	XP_011510033.1:p.Leu10925Val
XM_017004819.1:c.58816C>G (TTN)	XP_016860308.1:p.Leu19606Val
XM_017004820.1:c.54214C>G (TTN)	XP_016860309.1:p.Leu18072Val
XM_017004821.1:c.54211C>G (TTN)	XP_016860310.1:p.Leu18071Val
XM_017004822.1:c.51253C>G (TTN)	XP_016860311.1:p.Leu17085Val
XM_017004823.1:c.32869C>G (TTN)	XP_016860312.1:p.Leu10957Val
XM_024453094.1:c.54364C>G (TTN)	XP_024308862.1:p.Leu18122Val
XM_024453095.1:c.54361C>G (TTN)	XP_024308863.1:p.Leu18121Val
XM_024453096.1:c.53794C>G (TTN)	XP_024308864.1:p.Leu17932Val
XM_024453097.1:c.51136C>G (TTN)	XP_024308865.1:p.Leu17046Val
XM_024453098.1:c.51055C>G (TTN)	XP_024308866.1:p.Leu17019Val
XM_024453099.1:c.32818C>G (TTN)	XP_024308867.1:p.Leu10940Val
XM_024453100.1:c.22672C>G (TTN)	XP_024308868.1:p.Leu7558Val