Canonical Allele Identifier: CA349434712

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179404668T>A (hg19) ; chr2:g.178539941T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178539941T>A , CM000664.2:g.178539941T>A	GRCh38
NC_000002.11:g.179404668T>A , CM000664.1:g.179404668T>A	GRCh37
NC_000002.10:g.179112914T>A	NCBI36
NG_011618.3:g.295862A>T , LRG_391:g.295862A>T
NG_051363.1:g.22115T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.90420A>T (TTN)	ENSP00000343764.6:p.Glu30140Asp
ENST00000342175.11:c.71505A>T (TTN)	ENSP00000340554.6:p.Glu23835Asp
ENST00000359218.10:c.71304A>T (TTN)	ENSP00000352154.5:p.Glu23768Asp
ENST00000342175.10:c.71505A>T (TTN)	ENSP00000340554.6:p.Glu23835Asp
ENST00000342992.10:c.90420A>T (TTN)	ENSP00000343764.6:p.Glu30140Asp
ENST00000359218.9:c.71304A>T (TTN)	ENSP00000352154.5:p.Glu23768Asp
ENST00000460472.6:c.70929A>T (TTN)	ENSP00000434586.1:p.Glu23643Asp
ENST00000589042.5:c.98124A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu32708Asp
ENST00000591111.5:c.93201A>T (TTN)	ENSP00000465570.1:p.Glu31067Asp
ENST00000615779.4:c.93201A>T (TTN)	ENSP00000483597.1:p.Glu31067Asp
NM_001256850.1:c.93201A>T (TTN)	NP_001243779.1:p.Glu31067Asp
NM_001267550.2:c.98124A>T (TTN) MANE Select	NP_001254479.2:p.Glu32708Asp
NM_003319.4:c.70929A>T (TTN)	NP_003310.4:p.Glu23643Asp
NM_133378.4:c.90420A>T (TTN)	NP_596869.4:p.Glu30140Asp
NM_133432.3:c.71304A>T (TTN)	NP_597676.3:p.Glu23768Asp
NM_133437.4:c.71505A>T (TTN)	NP_597681.4:p.Glu23835Asp
NR_038271.1:n.446+16305T>A (TTN-AS1)
NR_038272.1:n.1840+51T>A (TTN-AS1)
XM_011511729.1:c.97221A>T (TTN)	XP_011510031.1:p.Glu32407Asp
XM_011511730.1:c.71115A>T (TTN)	XP_011510032.1:p.Glu23705Asp
XM_011511731.1:c.70974A>T (TTN)	XP_011510033.1:p.Glu23658Asp
XM_017004819.1:c.97017A>T (TTN)	XP_016860308.1:p.Glu32339Asp
XM_017004820.1:c.92415A>T (TTN)	XP_016860309.1:p.Glu30805Asp
XM_017004821.1:c.92412A>T (TTN)	XP_016860310.1:p.Glu30804Asp
XM_017004822.1:c.89454A>T (TTN)	XP_016860311.1:p.Glu29818Asp
XM_017004823.1:c.71070A>T (TTN)	XP_016860312.1:p.Glu23690Asp
XM_024453094.1:c.92565A>T (TTN)	XP_024308862.1:p.Glu30855Asp
XM_024453095.1:c.92562A>T (TTN)	XP_024308863.1:p.Glu30854Asp
XM_024453096.1:c.91995A>T (TTN)	XP_024308864.1:p.Glu30665Asp
XM_024453097.1:c.89337A>T (TTN)	XP_024308865.1:p.Glu29779Asp
XM_024453098.1:c.89256A>T (TTN)	XP_024308866.1:p.Glu29752Asp
XM_024453099.1:c.71019A>T (TTN)	XP_024308867.1:p.Glu23673Asp
XM_024453100.1:c.60873A>T (TTN)	XP_024308868.1:p.Glu20291Asp