Canonical Allele Identifier: CA349657900

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179439531C>A (hg19) ; chr2:g.178574804C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574804C>A , CM000664.2:g.178574804C>A	GRCh38
NC_000002.11:g.179439531C>A , CM000664.1:g.179439531C>A	GRCh37
NC_000002.10:g.179147777C>A	NCBI36
NG_011618.3:g.260999G>T , LRG_391:g.260999G>T
NG_051363.1:g.56978C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.63624G>T (TTN)	ENSP00000343764.6:p.Glu21208Asp
ENST00000342175.11:c.44709G>T (TTN)	ENSP00000340554.6:p.Glu14903Asp
ENST00000359218.10:c.44508G>T (TTN)	ENSP00000352154.5:p.Glu14836Asp
ENST00000342175.10:c.44709G>T (TTN)	ENSP00000340554.6:p.Glu14903Asp
ENST00000342992.10:c.63624G>T (TTN)	ENSP00000343764.6:p.Glu21208Asp
ENST00000359218.9:c.44508G>T (TTN)	ENSP00000352154.5:p.Glu14836Asp
ENST00000460472.6:c.44133G>T (TTN)	ENSP00000434586.1:p.Glu14711Asp
ENST00000589042.5:c.71328G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu23776Asp
ENST00000591111.5:c.66405G>T (TTN)	ENSP00000465570.1:p.Glu22135Asp
ENST00000615779.4:c.66405G>T (TTN)	ENSP00000483597.1:p.Glu22135Asp
NM_001256850.1:c.66405G>T (TTN)	NP_001243779.1:p.Glu22135Asp
NM_001267550.2:c.71328G>T (TTN) MANE Select	NP_001254479.2:p.Glu23776Asp
NM_003319.4:c.44133G>T (TTN)	NP_003310.4:p.Glu14711Asp
NM_133378.4:c.63624G>T (TTN)	NP_596869.4:p.Glu21208Asp
NM_133432.3:c.44508G>T (TTN)	NP_597676.3:p.Glu14836Asp
NM_133437.4:c.44709G>T (TTN)	NP_597681.4:p.Glu14903Asp
NR_038271.1:n.596+3355C>A (TTN-AS1)
NR_038272.1:n.2044-7768C>A (TTN-AS1)
XM_011511729.1:c.70425G>T (TTN)	XP_011510031.1:p.Glu23475Asp
XM_011511730.1:c.44319G>T (TTN)	XP_011510032.1:p.Glu14773Asp
XM_011511731.1:c.44178G>T (TTN)	XP_011510033.1:p.Glu14726Asp
XM_017004819.1:c.70221G>T (TTN)	XP_016860308.1:p.Glu23407Asp
XM_017004820.1:c.65619G>T (TTN)	XP_016860309.1:p.Glu21873Asp
XM_017004821.1:c.65616G>T (TTN)	XP_016860310.1:p.Glu21872Asp
XM_017004822.1:c.62658G>T (TTN)	XP_016860311.1:p.Glu20886Asp
XM_017004823.1:c.44274G>T (TTN)	XP_016860312.1:p.Glu14758Asp
XM_024453094.1:c.65769G>T (TTN)	XP_024308862.1:p.Glu21923Asp
XM_024453095.1:c.65766G>T (TTN)	XP_024308863.1:p.Glu21922Asp
XM_024453096.1:c.65199G>T (TTN)	XP_024308864.1:p.Glu21733Asp
XM_024453097.1:c.62541G>T (TTN)	XP_024308865.1:p.Glu20847Asp
XM_024453098.1:c.62460G>T (TTN)	XP_024308866.1:p.Glu20820Asp
XM_024453099.1:c.44223G>T (TTN)	XP_024308867.1:p.Glu14741Asp
XM_024453100.1:c.34077G>T (TTN)	XP_024308868.1:p.Glu11359Asp