Canonical Allele Identifier: CA349407155

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2944821
• ClinVar RCV Id: RCV003808523
• MyVariant Identifiers: chr2:g.179395299T>G (hg19) ; chr2:g.178530572T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530572T>G , CM000664.2:g.178530572T>G	GRCh38
NC_000002.11:g.179395299T>G , CM000664.1:g.179395299T>G	GRCh37
NC_000002.10:g.179103545T>G	NCBI36
NG_011618.3:g.305231A>C , LRG_391:g.305231A>C
NG_051363.1:g.12746T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98339A>C (TTN)	ENSP00000343764.6:p.Asn32780Thr
ENST00000342175.11:c.79424A>C (TTN)	ENSP00000340554.6:p.Asn26475Thr
ENST00000359218.10:c.79223A>C (TTN)	ENSP00000352154.5:p.Asn26408Thr
ENST00000342175.10:c.79424A>C (TTN)	ENSP00000340554.6:p.Asn26475Thr
ENST00000342992.10:c.98339A>C (TTN)	ENSP00000343764.6:p.Asn32780Thr
ENST00000359218.9:c.79223A>C (TTN)	ENSP00000352154.5:p.Asn26408Thr
ENST00000460472.6:c.78848A>C (TTN)	ENSP00000434586.1:p.Asn26283Thr
ENST00000589042.5:c.106043A>C (TTN) MANE Select	ENSP00000467141.1:p.Asn35348Thr
ENST00000591111.5:c.101120A>C (TTN)	ENSP00000465570.1:p.Asn33707Thr
ENST00000615779.4:c.101120A>C (TTN)	ENSP00000483597.1:p.Asn33707Thr
NM_001256850.1:c.101120A>C (TTN)	NP_001243779.1:p.Asn33707Thr
NM_001267550.2:c.106043A>C (TTN) MANE Select	NP_001254479.2:p.Asn35348Thr
NM_003319.4:c.78848A>C (TTN)	NP_003310.4:p.Asn26283Thr
NM_133378.4:c.98339A>C (TTN)	NP_596869.4:p.Asn32780Thr
NM_133432.3:c.79223A>C (TTN)	NP_597676.3:p.Asn26408Thr
NM_133437.4:c.79424A>C (TTN)	NP_597681.4:p.Asn26475Thr
NR_038271.1:n.446+6936T>G (TTN-AS1)
NR_038272.1:n.220-5160T>G (TTN-AS1)
XM_011511729.1:c.105140A>C (TTN)	XP_011510031.1:p.Asn35047Thr
XM_011511730.1:c.79034A>C (TTN)	XP_011510032.1:p.Asn26345Thr
XM_011511731.1:c.78893A>C (TTN)	XP_011510033.1:p.Asn26298Thr
XM_017004819.1:c.104936A>C (TTN)	XP_016860308.1:p.Asn34979Thr
XM_017004820.1:c.100334A>C (TTN)	XP_016860309.1:p.Asn33445Thr
XM_017004821.1:c.100331A>C (TTN)	XP_016860310.1:p.Asn33444Thr
XM_017004822.1:c.97373A>C (TTN)	XP_016860311.1:p.Asn32458Thr
XM_017004823.1:c.78989A>C (TTN)	XP_016860312.1:p.Asn26330Thr
XM_024453094.1:c.100484A>C (TTN)	XP_024308862.1:p.Asn33495Thr
XM_024453095.1:c.100481A>C (TTN)	XP_024308863.1:p.Asn33494Thr
XM_024453096.1:c.99914A>C (TTN)	XP_024308864.1:p.Asn33305Thr
XM_024453097.1:c.97256A>C (TTN)	XP_024308865.1:p.Asn32419Thr
XM_024453098.1:c.97175A>C (TTN)	XP_024308866.1:p.Asn32392Thr
XM_024453099.1:c.78938A>C (TTN)	XP_024308867.1:p.Asn26313Thr
XM_024453100.1:c.68792A>C (TTN)	XP_024308868.1:p.Asn22931Thr