Canonical Allele Identifier: CA349434791

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179404685C>G (hg19) ; chr2:g.178539958C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178539958C>G , CM000664.2:g.178539958C>G	GRCh38
NC_000002.11:g.179404685C>G , CM000664.1:g.179404685C>G	GRCh37
NC_000002.10:g.179112931C>G	NCBI36
NG_011618.3:g.295845G>C , LRG_391:g.295845G>C
NG_051363.1:g.22132C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.90403G>C (TTN)	ENSP00000343764.6:p.Asp30135His
ENST00000342175.11:c.71488G>C (TTN)	ENSP00000340554.6:p.Asp23830His
ENST00000359218.10:c.71287G>C (TTN)	ENSP00000352154.5:p.Asp23763His
ENST00000342175.10:c.71488G>C (TTN)	ENSP00000340554.6:p.Asp23830His
ENST00000342992.10:c.90403G>C (TTN)	ENSP00000343764.6:p.Asp30135His
ENST00000359218.9:c.71287G>C (TTN)	ENSP00000352154.5:p.Asp23763His
ENST00000460472.6:c.70912G>C (TTN)	ENSP00000434586.1:p.Asp23638His
ENST00000589042.5:c.98107G>C (TTN) MANE Select	ENSP00000467141.1:p.Asp32703His
ENST00000591111.5:c.93184G>C (TTN)	ENSP00000465570.1:p.Asp31062His
ENST00000615779.4:c.93184G>C (TTN)	ENSP00000483597.1:p.Asp31062His
NM_001256850.1:c.93184G>C (TTN)	NP_001243779.1:p.Asp31062His
NM_001267550.2:c.98107G>C (TTN) MANE Select	NP_001254479.2:p.Asp32703His
NM_003319.4:c.70912G>C (TTN)	NP_003310.4:p.Asp23638His
NM_133378.4:c.90403G>C (TTN)	NP_596869.4:p.Asp30135His
NM_133432.3:c.71287G>C (TTN)	NP_597676.3:p.Asp23763His
NM_133437.4:c.71488G>C (TTN)	NP_597681.4:p.Asp23830His
NR_038271.1:n.446+16322C>G (TTN-AS1)
NR_038272.1:n.1840+68C>G (TTN-AS1)
XM_011511729.1:c.97204G>C (TTN)	XP_011510031.1:p.Asp32402His
XM_011511730.1:c.71098G>C (TTN)	XP_011510032.1:p.Asp23700His
XM_011511731.1:c.70957G>C (TTN)	XP_011510033.1:p.Asp23653His
XM_017004819.1:c.97000G>C (TTN)	XP_016860308.1:p.Asp32334His
XM_017004820.1:c.92398G>C (TTN)	XP_016860309.1:p.Asp30800His
XM_017004821.1:c.92395G>C (TTN)	XP_016860310.1:p.Asp30799His
XM_017004822.1:c.89437G>C (TTN)	XP_016860311.1:p.Asp29813His
XM_017004823.1:c.71053G>C (TTN)	XP_016860312.1:p.Asp23685His
XM_024453094.1:c.92548G>C (TTN)	XP_024308862.1:p.Asp30850His
XM_024453095.1:c.92545G>C (TTN)	XP_024308863.1:p.Asp30849His
XM_024453096.1:c.91978G>C (TTN)	XP_024308864.1:p.Asp30660His
XM_024453097.1:c.89320G>C (TTN)	XP_024308865.1:p.Asp29774His
XM_024453098.1:c.89239G>C (TTN)	XP_024308866.1:p.Asp29747His
XM_024453099.1:c.71002G>C (TTN)	XP_024308867.1:p.Asp23668His
XM_024453100.1:c.60856G>C (TTN)	XP_024308868.1:p.Asp20286His