Canonical Allele Identifier: CA349484308

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179523492C>G (hg19) ; chr2:g.178658765C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178658765C>G , CM000664.2:g.178658765C>G	GRCh38
NC_000002.11:g.179523492C>G , CM000664.1:g.179523492C>G	GRCh37
NC_000002.10:g.179231737C>G	NCBI36
NG_011618.3:g.177038G>C , LRG_391:g.177038G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.31741+240G>C	ENSP00000343764.6:n.31741+240G>C
ENST00000342175.11:c.13859-16448G>C	ENSP00000340554.6:n.13859-16448G>C
ENST00000359218.10:c.13658-16448G>C	ENSP00000352154.5:n.13658-16448G>C
ENST00000342175.10:c.13859-16448G>C	ENSP00000340554.6:n.13859-16448G>C
ENST00000342992.10:c.31741+240G>C	ENSP00000343764.6:n.31741+240G>C
ENST00000359218.9:c.13658-16448G>C	ENSP00000352154.5:n.13658-16448G>C
ENST00000414766.5:c.2440+14868G>C	ENSP00000401501.1:n.2440+14868G>C
ENST00000460472.6:c.13283-16448G>C	ENSP00000434586.1:n.13283-16448G>C
ENST00000589042.5:c.37483G>C MANE Select	ENSP00000467141.1:p.Val12495Leu
ENST00000591111.5:c.34294G>C	ENSP00000465570.1:p.Val11432Leu
ENST00000615779.4:c.34522+240G>C	ENSP00000483597.1:n.34522+240G>C
NM_001256850.1:c.34522+240G>C	NP_001243779.1:n.34522+240G>C
NM_001267550.2:c.37483G>C MANE Select	NP_001254479.2:p.Val12495Leu
NM_003319.4:c.13283-16448G>C	NP_003310.4:n.13283-16448G>C
NM_133378.4:c.31741+240G>C	NP_596869.4:n.31741+240G>C
NM_133432.3:c.13658-16448G>C	NP_597676.3:n.13658-16448G>C
NM_133437.4:c.13859-16448G>C	NP_597681.4:n.13859-16448G>C
XM_011511729.1:c.36580G>C	XP_011510031.1:p.Val12194Leu
XM_011511730.1:c.13469-16448G>C	XP_011510032.1:n.13469-16448G>C
XM_011511731.1:c.13328-16448G>C	XP_011510033.1:n.13328-16448G>C
XM_017004819.1:c.36376G>C	XP_016860308.1:p.Val12126Leu
XM_017004820.1:c.31774G>C	XP_016860309.1:p.Val10592Leu
XM_017004821.1:c.31771G>C	XP_016860310.1:p.Val10591Leu
XM_017004822.1:c.31858+14868G>C	XP_016860311.1:n.31858+14868G>C
XM_017004823.1:c.13424-16448G>C	XP_016860312.1:n.13424-16448G>C
XM_024453094.1:c.33418G>C	XP_024308862.1:p.Val11140Leu
XM_024453095.1:c.33415G>C	XP_024308863.1:p.Val11139Leu
XM_024453096.1:c.32848G>C	XP_024308864.1:p.Val10950Leu
XM_024453097.1:c.31690+14868G>C	XP_024308865.1:n.31690+14868G>C
XM_024453098.1:c.31609+14868G>C	XP_024308866.1:n.31609+14868G>C
XM_024453099.1:c.13424-16448G>C	XP_024308867.1:n.13424-16448G>C
XM_024453100.1:c.232G>C	XP_024308868.1:p.Val78Leu