Canonical Allele Identifier: CA349593256

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179430991T>A (hg19) ; chr2:g.178566264T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566264T>A , CM000664.2:g.178566264T>A	GRCh38
NC_000002.11:g.179430991T>A , CM000664.1:g.179430991T>A	GRCh37
NC_000002.10:g.179139237T>A	NCBI36
NG_011618.3:g.269539A>T , LRG_391:g.269539A>T
NG_051363.1:g.48438T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.72164A>T (TTN)	ENSP00000343764.6:p.Glu24055Val
ENST00000342175.11:c.53249A>T (TTN)	ENSP00000340554.6:p.Glu17750Val
ENST00000359218.10:c.53048A>T (TTN)	ENSP00000352154.5:p.Glu17683Val
ENST00000342175.10:c.53249A>T (TTN)	ENSP00000340554.6:p.Glu17750Val
ENST00000342992.10:c.72164A>T (TTN)	ENSP00000343764.6:p.Glu24055Val
ENST00000359218.9:c.53048A>T (TTN)	ENSP00000352154.5:p.Glu17683Val
ENST00000460472.6:c.52673A>T (TTN)	ENSP00000434586.1:p.Glu17558Val
ENST00000589042.5:c.79868A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu26623Val
ENST00000591111.5:c.74945A>T (TTN)	ENSP00000465570.1:p.Glu24982Val
ENST00000615779.4:c.74945A>T (TTN)	ENSP00000483597.1:p.Glu24982Val
NM_001256850.1:c.74945A>T (TTN)	NP_001243779.1:p.Glu24982Val
NM_001267550.2:c.79868A>T (TTN) MANE Select	NP_001254479.2:p.Glu26623Val
NM_003319.4:c.52673A>T (TTN)	NP_003310.4:p.Glu17558Val
NM_133378.4:c.72164A>T (TTN)	NP_596869.4:p.Glu24055Val
NM_133432.3:c.53048A>T (TTN)	NP_597676.3:p.Glu17683Val
NM_133437.4:c.53249A>T (TTN)	NP_597681.4:p.Glu17750Val
NR_038271.1:n.447-5036T>A (TTN-AS1)
NR_038272.1:n.2044-16308T>A (TTN-AS1)
XM_011511729.1:c.78965A>T (TTN)	XP_011510031.1:p.Glu26322Val
XM_011511730.1:c.52859A>T (TTN)	XP_011510032.1:p.Glu17620Val
XM_011511731.1:c.52718A>T (TTN)	XP_011510033.1:p.Glu17573Val
XM_017004819.1:c.78761A>T (TTN)	XP_016860308.1:p.Glu26254Val
XM_017004820.1:c.74159A>T (TTN)	XP_016860309.1:p.Glu24720Val
XM_017004821.1:c.74156A>T (TTN)	XP_016860310.1:p.Glu24719Val
XM_017004822.1:c.71198A>T (TTN)	XP_016860311.1:p.Glu23733Val
XM_017004823.1:c.52814A>T (TTN)	XP_016860312.1:p.Glu17605Val
XM_024453094.1:c.74309A>T (TTN)	XP_024308862.1:p.Glu24770Val
XM_024453095.1:c.74306A>T (TTN)	XP_024308863.1:p.Glu24769Val
XM_024453096.1:c.73739A>T (TTN)	XP_024308864.1:p.Glu24580Val
XM_024453097.1:c.71081A>T (TTN)	XP_024308865.1:p.Glu23694Val
XM_024453098.1:c.71000A>T (TTN)	XP_024308866.1:p.Glu23667Val
XM_024453099.1:c.52763A>T (TTN)	XP_024308867.1:p.Glu17588Val
XM_024453100.1:c.42617A>T (TTN)	XP_024308868.1:p.Glu14206Val