Canonical Allele Identifier: CA349496350

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178549856-T-G
• COSMIC: COSM5395106 ; COSM5395107 ; COSM5395108 ; COSM5395109
• MyVariant Identifiers: chr2:g.179414583T>G (hg19) ; chr2:g.178549856T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549856T>G , CM000664.2:g.178549856T>G	GRCh38
NC_000002.11:g.179414583T>G , CM000664.1:g.179414583T>G	GRCh37
NC_000002.10:g.179122829T>G	NCBI36
NG_011618.3:g.285947A>C , LRG_391:g.285947A>C
NG_051363.1:g.32030T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84162A>C (TTN)	ENSP00000343764.6:p.Lys28054Asn
ENST00000342175.11:c.65247A>C (TTN)	ENSP00000340554.6:p.Lys21749Asn
ENST00000359218.10:c.65046A>C (TTN)	ENSP00000352154.5:p.Lys21682Asn
ENST00000342175.10:c.65247A>C (TTN)	ENSP00000340554.6:p.Lys21749Asn
ENST00000342992.10:c.84162A>C (TTN)	ENSP00000343764.6:p.Lys28054Asn
ENST00000359218.9:c.65046A>C (TTN)	ENSP00000352154.5:p.Lys21682Asn
ENST00000460472.6:c.64671A>C (TTN)	ENSP00000434586.1:p.Lys21557Asn
ENST00000589042.5:c.91866A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys30622Asn
ENST00000591111.5:c.86943A>C (TTN)	ENSP00000465570.1:p.Lys28981Asn
ENST00000615779.4:c.86943A>C (TTN)	ENSP00000483597.1:p.Lys28981Asn
NM_001256850.1:c.86943A>C (TTN)	NP_001243779.1:p.Lys28981Asn
NM_001267550.2:c.91866A>C (TTN) MANE Select	NP_001254479.2:p.Lys30622Asn
NM_003319.4:c.64671A>C (TTN)	NP_003310.4:p.Lys21557Asn
NM_133378.4:c.84162A>C (TTN)	NP_596869.4:p.Lys28054Asn
NM_133432.3:c.65046A>C (TTN)	NP_597676.3:p.Lys21682Asn
NM_133437.4:c.65247A>C (TTN)	NP_597681.4:p.Lys21749Asn
NR_038271.1:n.447-21444T>G (TTN-AS1)
NR_038272.1:n.2043+7495T>G (TTN-AS1)
XM_011511729.1:c.90963A>C (TTN)	XP_011510031.1:p.Lys30321Asn
XM_011511730.1:c.64857A>C (TTN)	XP_011510032.1:p.Lys21619Asn
XM_011511731.1:c.64716A>C (TTN)	XP_011510033.1:p.Lys21572Asn
XM_017004819.1:c.90759A>C (TTN)	XP_016860308.1:p.Lys30253Asn
XM_017004820.1:c.86157A>C (TTN)	XP_016860309.1:p.Lys28719Asn
XM_017004821.1:c.86154A>C (TTN)	XP_016860310.1:p.Lys28718Asn
XM_017004822.1:c.83196A>C (TTN)	XP_016860311.1:p.Lys27732Asn
XM_017004823.1:c.64812A>C (TTN)	XP_016860312.1:p.Lys21604Asn
XM_024453094.1:c.86307A>C (TTN)	XP_024308862.1:p.Lys28769Asn
XM_024453095.1:c.86304A>C (TTN)	XP_024308863.1:p.Lys28768Asn
XM_024453096.1:c.85737A>C (TTN)	XP_024308864.1:p.Lys28579Asn
XM_024453097.1:c.83079A>C (TTN)	XP_024308865.1:p.Lys27693Asn
XM_024453098.1:c.82998A>C (TTN)	XP_024308866.1:p.Lys27666Asn
XM_024453099.1:c.64761A>C (TTN)	XP_024308867.1:p.Lys21587Asn
XM_024453100.1:c.54615A>C (TTN)	XP_024308868.1:p.Lys18205Asn