Canonical Allele Identifier: CA349479818

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179412458A>C (hg19) ; chr2:g.178547731A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178547731A>C , CM000664.2:g.178547731A>C	GRCh38
NC_000002.11:g.179412458A>C , CM000664.1:g.179412458A>C	GRCh37
NC_000002.10:g.179120704A>C	NCBI36
NG_011618.3:g.288072T>G , LRG_391:g.288072T>G
NG_051363.1:g.29905A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86191T>G (TTN)	ENSP00000343764.6:p.Phe28731Val
ENST00000342175.11:c.67276T>G (TTN)	ENSP00000340554.6:p.Phe22426Val
ENST00000359218.10:c.67075T>G (TTN)	ENSP00000352154.5:p.Phe22359Val
ENST00000342175.10:c.67276T>G (TTN)	ENSP00000340554.6:p.Phe22426Val
ENST00000342992.10:c.86191T>G (TTN)	ENSP00000343764.6:p.Phe28731Val
ENST00000359218.9:c.67075T>G (TTN)	ENSP00000352154.5:p.Phe22359Val
ENST00000460472.6:c.66700T>G (TTN)	ENSP00000434586.1:p.Phe22234Val
ENST00000589042.5:c.93895T>G (TTN) MANE Select	ENSP00000467141.1:p.Phe31299Val
ENST00000591111.5:c.88972T>G (TTN)	ENSP00000465570.1:p.Phe29658Val
ENST00000615779.4:c.88972T>G (TTN)	ENSP00000483597.1:p.Phe29658Val
NM_001256850.1:c.88972T>G (TTN)	NP_001243779.1:p.Phe29658Val
NM_001267550.2:c.93895T>G (TTN) MANE Select	NP_001254479.2:p.Phe31299Val
NM_003319.4:c.66700T>G (TTN)	NP_003310.4:p.Phe22234Val
NM_133378.4:c.86191T>G (TTN)	NP_596869.4:p.Phe28731Val
NM_133432.3:c.67075T>G (TTN)	NP_597676.3:p.Phe22359Val
NM_133437.4:c.67276T>G (TTN)	NP_597681.4:p.Phe22426Val
NR_038271.1:n.447-23569A>C (TTN-AS1)
NR_038272.1:n.2043+5370A>C (TTN-AS1)
XM_011511729.1:c.92992T>G (TTN)	XP_011510031.1:p.Phe30998Val
XM_011511730.1:c.66886T>G (TTN)	XP_011510032.1:p.Phe22296Val
XM_011511731.1:c.66745T>G (TTN)	XP_011510033.1:p.Phe22249Val
XM_017004819.1:c.92788T>G (TTN)	XP_016860308.1:p.Phe30930Val
XM_017004820.1:c.88186T>G (TTN)	XP_016860309.1:p.Phe29396Val
XM_017004821.1:c.88183T>G (TTN)	XP_016860310.1:p.Phe29395Val
XM_017004822.1:c.85225T>G (TTN)	XP_016860311.1:p.Phe28409Val
XM_017004823.1:c.66841T>G (TTN)	XP_016860312.1:p.Phe22281Val
XM_024453094.1:c.88336T>G (TTN)	XP_024308862.1:p.Phe29446Val
XM_024453095.1:c.88333T>G (TTN)	XP_024308863.1:p.Phe29445Val
XM_024453096.1:c.87766T>G (TTN)	XP_024308864.1:p.Phe29256Val
XM_024453097.1:c.85108T>G (TTN)	XP_024308865.1:p.Phe28370Val
XM_024453098.1:c.85027T>G (TTN)	XP_024308866.1:p.Phe28343Val
XM_024453099.1:c.66790T>G (TTN)	XP_024308867.1:p.Phe22264Val
XM_024453100.1:c.56644T>G (TTN)	XP_024308868.1:p.Phe18882Val