Canonical Allele Identifier: CA349411884

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178532243-T-G
• MyVariant Identifiers: chr2:g.179396970T>G (hg19) ; chr2:g.178532243T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532243T>G , CM000664.2:g.178532243T>G	GRCh38
NC_000002.11:g.179396970T>G , CM000664.1:g.179396970T>G	GRCh37
NC_000002.10:g.179105216T>G	NCBI36
NG_011618.3:g.303560A>C , LRG_391:g.303560A>C
NG_051363.1:g.14417T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96668A>C (TTN)	ENSP00000343764.6:p.Asp32223Ala
ENST00000342175.11:c.77753A>C (TTN)	ENSP00000340554.6:p.Asp25918Ala
ENST00000359218.10:c.77552A>C (TTN)	ENSP00000352154.5:p.Asp25851Ala
ENST00000342175.10:c.77753A>C (TTN)	ENSP00000340554.6:p.Asp25918Ala
ENST00000342992.10:c.96668A>C (TTN)	ENSP00000343764.6:p.Asp32223Ala
ENST00000359218.9:c.77552A>C (TTN)	ENSP00000352154.5:p.Asp25851Ala
ENST00000460472.6:c.77177A>C (TTN)	ENSP00000434586.1:p.Asp25726Ala
ENST00000589042.5:c.104372A>C (TTN) MANE Select	ENSP00000467141.1:p.Asp34791Ala
ENST00000591111.5:c.99449A>C (TTN)	ENSP00000465570.1:p.Asp33150Ala
ENST00000615779.4:c.99449A>C (TTN)	ENSP00000483597.1:p.Asp33150Ala
NM_001256850.1:c.99449A>C (TTN)	NP_001243779.1:p.Asp33150Ala
NM_001267550.2:c.104372A>C (TTN) MANE Select	NP_001254479.2:p.Asp34791Ala
NM_003319.4:c.77177A>C (TTN)	NP_003310.4:p.Asp25726Ala
NM_133378.4:c.96668A>C (TTN)	NP_596869.4:p.Asp32223Ala
NM_133432.3:c.77552A>C (TTN)	NP_597676.3:p.Asp25851Ala
NM_133437.4:c.77753A>C (TTN)	NP_597681.4:p.Asp25918Ala
NR_038271.1:n.446+8607T>G (TTN-AS1)
NR_038272.1:n.220-3489T>G (TTN-AS1)
XM_011511729.1:c.103469A>C (TTN)	XP_011510031.1:p.Asp34490Ala
XM_011511730.1:c.77363A>C (TTN)	XP_011510032.1:p.Asp25788Ala
XM_011511731.1:c.77222A>C (TTN)	XP_011510033.1:p.Asp25741Ala
XM_017004819.1:c.103265A>C (TTN)	XP_016860308.1:p.Asp34422Ala
XM_017004820.1:c.98663A>C (TTN)	XP_016860309.1:p.Asp32888Ala
XM_017004821.1:c.98660A>C (TTN)	XP_016860310.1:p.Asp32887Ala
XM_017004822.1:c.95702A>C (TTN)	XP_016860311.1:p.Asp31901Ala
XM_017004823.1:c.77318A>C (TTN)	XP_016860312.1:p.Asp25773Ala
XM_024453094.1:c.98813A>C (TTN)	XP_024308862.1:p.Asp32938Ala
XM_024453095.1:c.98810A>C (TTN)	XP_024308863.1:p.Asp32937Ala
XM_024453096.1:c.98243A>C (TTN)	XP_024308864.1:p.Asp32748Ala
XM_024453097.1:c.95585A>C (TTN)	XP_024308865.1:p.Asp31862Ala
XM_024453098.1:c.95504A>C (TTN)	XP_024308866.1:p.Asp31835Ala
XM_024453099.1:c.77267A>C (TTN)	XP_024308867.1:p.Asp25756Ala
XM_024453100.1:c.67121A>C (TTN)	XP_024308868.1:p.Asp22374Ala