Canonical Allele Identifier: CA349520252

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179586619T>C (hg19) ; chr2:g.178721892T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178721892T>C , CM000664.2:g.178721892T>C	GRCh38
NC_000002.11:g.179586619T>C , CM000664.1:g.179586619T>C	GRCh37
NC_000002.10:g.179294864T>C	NCBI36
NG_011618.3:g.113911A>G , LRG_391:g.113911A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.19039A>G	ENSP00000343764.6:p.Asn6347Asp
ENST00000342175.11:c.13858+16190A>G	ENSP00000340554.6:n.13858+16190A>G
ENST00000359218.10:c.13657+16190A>G	ENSP00000352154.5:n.13657+16190A>G
ENST00000342175.10:c.13858+16190A>G	ENSP00000340554.6:n.13858+16190A>G
ENST00000342992.10:c.19039A>G	ENSP00000343764.6:p.Asn6347Asp
ENST00000359218.9:c.13657+16190A>G	ENSP00000352154.5:n.13657+16190A>G
ENST00000460472.6:c.13282+16190A>G	ENSP00000434586.1:n.13282+16190A>G
ENST00000589042.5:c.22771A>G MANE Select	ENSP00000467141.1:p.Asn7591Asp
ENST00000591111.5:c.21820A>G	ENSP00000465570.1:p.Asn7274Asp
ENST00000615779.4:c.21820A>G	ENSP00000483597.1:p.Asn7274Asp
NM_001256850.1:c.21820A>G	NP_001243779.1:p.Asn7274Asp
NM_001267550.2:c.22771A>G MANE Select	NP_001254479.2:p.Asn7591Asp
NM_003319.4:c.13282+16190A>G	NP_003310.4:n.13282+16190A>G
NM_133378.4:c.19039A>G	NP_596869.4:p.Asn6347Asp
NM_133432.3:c.13657+16190A>G	NP_597676.3:n.13657+16190A>G
NM_133437.4:c.13858+16190A>G	NP_597681.4:n.13858+16190A>G
XM_011511729.1:c.21868A>G	XP_011510031.1:p.Asn7290Asp
XM_011511730.1:c.13468+16190A>G	XP_011510032.1:n.13468+16190A>G
XM_011511731.1:c.13327+16190A>G	XP_011510033.1:n.13327+16190A>G
XM_017004819.1:c.21823A>G	XP_016860308.1:p.Asn7275Asp
XM_017004820.1:c.19042A>G	XP_016860309.1:p.Asn6348Asp
XM_017004821.1:c.19039A>G	XP_016860310.1:p.Asn6347Asp
XM_017004822.1:c.21823A>G	XP_016860311.1:p.Asn7275Asp
XM_017004823.1:c.13423+16190A>G	XP_016860312.1:n.13423+16190A>G
XM_024453094.1:c.21823A>G	XP_024308862.1:p.Asn7275Asp
XM_024453095.1:c.21823A>G	XP_024308863.1:p.Asn7275Asp
XM_024453096.1:c.21823A>G	XP_024308864.1:p.Asn7275Asp
XM_024453097.1:c.21823A>G	XP_024308865.1:p.Asn7275Asp
XM_024453098.1:c.21823A>G	XP_024308866.1:p.Asn7275Asp
XM_024453099.1:c.13423+16190A>G	XP_024308867.1:n.13423+16190A>G