Canonical Allele Identifier: CA349484265

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179523486C>G (hg19) ; chr2:g.178658759C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178658759C>G , CM000664.2:g.178658759C>G	GRCh38
NC_000002.11:g.179523486C>G , CM000664.1:g.179523486C>G	GRCh37
NC_000002.10:g.179231731C>G	NCBI36
NG_011618.3:g.177044G>C , LRG_391:g.177044G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.31741+246G>C	ENSP00000343764.6:n.31741+246G>C
ENST00000342175.11:c.13859-16442G>C	ENSP00000340554.6:n.13859-16442G>C
ENST00000359218.10:c.13658-16442G>C	ENSP00000352154.5:n.13658-16442G>C
ENST00000342175.10:c.13859-16442G>C	ENSP00000340554.6:n.13859-16442G>C
ENST00000342992.10:c.31741+246G>C	ENSP00000343764.6:n.31741+246G>C
ENST00000359218.9:c.13658-16442G>C	ENSP00000352154.5:n.13658-16442G>C
ENST00000414766.5:c.2440+14874G>C	ENSP00000401501.1:n.2440+14874G>C
ENST00000460472.6:c.13283-16442G>C	ENSP00000434586.1:n.13283-16442G>C
ENST00000589042.5:c.37489G>C MANE Select	ENSP00000467141.1:p.Glu12497Gln
ENST00000591111.5:c.34300G>C	ENSP00000465570.1:p.Glu11434Gln
ENST00000615779.4:c.34522+246G>C	ENSP00000483597.1:n.34522+246G>C
NM_001256850.1:c.34522+246G>C	NP_001243779.1:n.34522+246G>C
NM_001267550.2:c.37489G>C MANE Select	NP_001254479.2:p.Glu12497Gln
NM_003319.4:c.13283-16442G>C	NP_003310.4:n.13283-16442G>C
NM_133378.4:c.31741+246G>C	NP_596869.4:n.31741+246G>C
NM_133432.3:c.13658-16442G>C	NP_597676.3:n.13658-16442G>C
NM_133437.4:c.13859-16442G>C	NP_597681.4:n.13859-16442G>C
XM_011511729.1:c.36586G>C	XP_011510031.1:p.Glu12196Gln
XM_011511730.1:c.13469-16442G>C	XP_011510032.1:n.13469-16442G>C
XM_011511731.1:c.13328-16442G>C	XP_011510033.1:n.13328-16442G>C
XM_017004819.1:c.36382G>C	XP_016860308.1:p.Glu12128Gln
XM_017004820.1:c.31780G>C	XP_016860309.1:p.Glu10594Gln
XM_017004821.1:c.31777G>C	XP_016860310.1:p.Glu10593Gln
XM_017004822.1:c.31858+14874G>C	XP_016860311.1:n.31858+14874G>C
XM_017004823.1:c.13424-16442G>C	XP_016860312.1:n.13424-16442G>C
XM_024453094.1:c.33424G>C	XP_024308862.1:p.Glu11142Gln
XM_024453095.1:c.33421G>C	XP_024308863.1:p.Glu11141Gln
XM_024453096.1:c.32854G>C	XP_024308864.1:p.Glu10952Gln
XM_024453097.1:c.31690+14874G>C	XP_024308865.1:n.31690+14874G>C
XM_024453098.1:c.31609+14874G>C	XP_024308866.1:n.31609+14874G>C
XM_024453099.1:c.13424-16442G>C	XP_024308867.1:n.13424-16442G>C
XM_024453100.1:c.238G>C	XP_024308868.1:p.Glu80Gln