Canonical Allele Identifier: CA349456020

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409036C>G (hg19) ; chr2:g.178544309C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544309C>G , CM000664.2:g.178544309C>G	GRCh38
NC_000002.11:g.179409036C>G , CM000664.1:g.179409036C>G	GRCh37
NC_000002.10:g.179117282C>G	NCBI36
NG_011618.3:g.291494G>C , LRG_391:g.291494G>C
NG_051363.1:g.26483C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88216G>C (TTN)	ENSP00000343764.6:p.Asp29406His
ENST00000342175.11:c.69301G>C (TTN)	ENSP00000340554.6:p.Asp23101His
ENST00000359218.10:c.69100G>C (TTN)	ENSP00000352154.5:p.Asp23034His
ENST00000342175.10:c.69301G>C (TTN)	ENSP00000340554.6:p.Asp23101His
ENST00000342992.10:c.88216G>C (TTN)	ENSP00000343764.6:p.Asp29406His
ENST00000359218.9:c.69100G>C (TTN)	ENSP00000352154.5:p.Asp23034His
ENST00000460472.6:c.68725G>C (TTN)	ENSP00000434586.1:p.Asp22909His
ENST00000589042.5:c.95920G>C (TTN) MANE Select	ENSP00000467141.1:p.Asp31974His
ENST00000591111.5:c.90997G>C (TTN)	ENSP00000465570.1:p.Asp30333His
ENST00000615779.4:c.90997G>C (TTN)	ENSP00000483597.1:p.Asp30333His
NM_001256850.1:c.90997G>C (TTN)	NP_001243779.1:p.Asp30333His
NM_001267550.2:c.95920G>C (TTN) MANE Select	NP_001254479.2:p.Asp31974His
NM_003319.4:c.68725G>C (TTN)	NP_003310.4:p.Asp22909His
NM_133378.4:c.88216G>C (TTN)	NP_596869.4:p.Asp29406His
NM_133432.3:c.69100G>C (TTN)	NP_597676.3:p.Asp23034His
NM_133437.4:c.69301G>C (TTN)	NP_597681.4:p.Asp23101His
NR_038271.1:n.446+20673C>G (TTN-AS1)
NR_038272.1:n.2043+1948C>G (TTN-AS1)
XM_011511729.1:c.95017G>C (TTN)	XP_011510031.1:p.Asp31673His
XM_011511730.1:c.68911G>C (TTN)	XP_011510032.1:p.Asp22971His
XM_011511731.1:c.68770G>C (TTN)	XP_011510033.1:p.Asp22924His
XM_017004819.1:c.94813G>C (TTN)	XP_016860308.1:p.Asp31605His
XM_017004820.1:c.90211G>C (TTN)	XP_016860309.1:p.Asp30071His
XM_017004821.1:c.90208G>C (TTN)	XP_016860310.1:p.Asp30070His
XM_017004822.1:c.87250G>C (TTN)	XP_016860311.1:p.Asp29084His
XM_017004823.1:c.68866G>C (TTN)	XP_016860312.1:p.Asp22956His
XM_024453094.1:c.90361G>C (TTN)	XP_024308862.1:p.Asp30121His
XM_024453095.1:c.90358G>C (TTN)	XP_024308863.1:p.Asp30120His
XM_024453096.1:c.89791G>C (TTN)	XP_024308864.1:p.Asp29931His
XM_024453097.1:c.87133G>C (TTN)	XP_024308865.1:p.Asp29045His
XM_024453098.1:c.87052G>C (TTN)	XP_024308866.1:p.Asp29018His
XM_024453099.1:c.68815G>C (TTN)	XP_024308867.1:p.Asp22939His
XM_024453100.1:c.58669G>C (TTN)	XP_024308868.1:p.Asp19557His