Canonical Allele Identifier: CA349503983

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179416560A>C (hg19) ; chr2:g.178551833A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551833A>C , CM000664.2:g.178551833A>C	GRCh38
NC_000002.11:g.179416560A>C , CM000664.1:g.179416560A>C	GRCh37
NC_000002.10:g.179124806A>C	NCBI36
NG_011618.3:g.283970T>G , LRG_391:g.283970T>G
NG_051363.1:g.34007A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83363T>G (TTN)	ENSP00000343764.6:p.Val27788Gly
ENST00000342175.11:c.64448T>G (TTN)	ENSP00000340554.6:p.Val21483Gly
ENST00000359218.10:c.64247T>G (TTN)	ENSP00000352154.5:p.Val21416Gly
ENST00000342175.10:c.64448T>G (TTN)	ENSP00000340554.6:p.Val21483Gly
ENST00000342992.10:c.83363T>G (TTN)	ENSP00000343764.6:p.Val27788Gly
ENST00000359218.9:c.64247T>G (TTN)	ENSP00000352154.5:p.Val21416Gly
ENST00000460472.6:c.63872T>G (TTN)	ENSP00000434586.1:p.Val21291Gly
ENST00000589042.5:c.91067T>G (TTN) MANE Select	ENSP00000467141.1:p.Val30356Gly
ENST00000591111.5:c.86144T>G (TTN)	ENSP00000465570.1:p.Val28715Gly
ENST00000615779.4:c.86144T>G (TTN)	ENSP00000483597.1:p.Val28715Gly
NM_001256850.1:c.86144T>G (TTN)	NP_001243779.1:p.Val28715Gly
NM_001267550.2:c.91067T>G (TTN) MANE Select	NP_001254479.2:p.Val30356Gly
NM_003319.4:c.63872T>G (TTN)	NP_003310.4:p.Val21291Gly
NM_133378.4:c.83363T>G (TTN)	NP_596869.4:p.Val27788Gly
NM_133432.3:c.64247T>G (TTN)	NP_597676.3:p.Val21416Gly
NM_133437.4:c.64448T>G (TTN)	NP_597681.4:p.Val21483Gly
NR_038271.1:n.447-19467A>C (TTN-AS1)
NR_038272.1:n.2043+9472A>C (TTN-AS1)
XM_011511729.1:c.90164T>G (TTN)	XP_011510031.1:p.Val30055Gly
XM_011511730.1:c.64058T>G (TTN)	XP_011510032.1:p.Val21353Gly
XM_011511731.1:c.63917T>G (TTN)	XP_011510033.1:p.Val21306Gly
XM_017004819.1:c.89960T>G (TTN)	XP_016860308.1:p.Val29987Gly
XM_017004820.1:c.85358T>G (TTN)	XP_016860309.1:p.Val28453Gly
XM_017004821.1:c.85355T>G (TTN)	XP_016860310.1:p.Val28452Gly
XM_017004822.1:c.82397T>G (TTN)	XP_016860311.1:p.Val27466Gly
XM_017004823.1:c.64013T>G (TTN)	XP_016860312.1:p.Val21338Gly
XM_024453094.1:c.85508T>G (TTN)	XP_024308862.1:p.Val28503Gly
XM_024453095.1:c.85505T>G (TTN)	XP_024308863.1:p.Val28502Gly
XM_024453096.1:c.84938T>G (TTN)	XP_024308864.1:p.Val28313Gly
XM_024453097.1:c.82280T>G (TTN)	XP_024308865.1:p.Val27427Gly
XM_024453098.1:c.82199T>G (TTN)	XP_024308866.1:p.Val27400Gly
XM_024453099.1:c.63962T>G (TTN)	XP_024308867.1:p.Val21321Gly
XM_024453100.1:c.53816T>G (TTN)	XP_024308868.1:p.Val17939Gly