Canonical Allele Identifier: CA349405624

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 535017
• ClinVar RCV Id: RCV000642773
• dbSNP Id: rs1398739704
• gnomAD v2: 2-179394839-A-G
• gnomAD v3: 2-178530112-A-G
• gnomAD v4: 2-178530112-A-G
• COSMIC: COSM1136403 ; COSM1136404 ; COSM1136405 ; COSM1136406
• MyVariant Identifiers: chr2:g.179394839A>G (hg19) ; chr2:g.178530112A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530112A>G , CM000664.2:g.178530112A>G	GRCh38
NC_000002.11:g.179394839A>G , CM000664.1:g.179394839A>G	GRCh37
NC_000002.10:g.179103085A>G	NCBI36
NG_011618.3:g.305691T>C , LRG_391:g.305691T>C
NG_051363.1:g.12286A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98675T>C (TTN)	ENSP00000343764.6:p.Ile32892Thr
ENST00000342175.11:c.79760T>C (TTN)	ENSP00000340554.6:p.Ile26587Thr
ENST00000359218.10:c.79559T>C (TTN)	ENSP00000352154.5:p.Ile26520Thr
ENST00000342175.10:c.79760T>C (TTN)	ENSP00000340554.6:p.Ile26587Thr
ENST00000342992.10:c.98675T>C (TTN)	ENSP00000343764.6:p.Ile32892Thr
ENST00000359218.9:c.79559T>C (TTN)	ENSP00000352154.5:p.Ile26520Thr
ENST00000460472.6:c.79184T>C (TTN)	ENSP00000434586.1:p.Ile26395Thr
ENST00000589042.5:c.106379T>C (TTN) MANE Select	ENSP00000467141.1:p.Ile35460Thr
ENST00000591111.5:c.101456T>C (TTN)	ENSP00000465570.1:p.Ile33819Thr
ENST00000615779.4:c.101456T>C (TTN)	ENSP00000483597.1:p.Ile33819Thr
NM_001256850.1:c.101456T>C (TTN)	NP_001243779.1:p.Ile33819Thr
NM_001267550.2:c.106379T>C (TTN) MANE Select	NP_001254479.2:p.Ile35460Thr
NM_003319.4:c.79184T>C (TTN)	NP_003310.4:p.Ile26395Thr
NM_133378.4:c.98675T>C (TTN)	NP_596869.4:p.Ile32892Thr
NM_133432.3:c.79559T>C (TTN)	NP_597676.3:p.Ile26520Thr
NM_133437.4:c.79760T>C (TTN)	NP_597681.4:p.Ile26587Thr
NR_038271.1:n.446+6476A>G (TTN-AS1)
NR_038272.1:n.220-5620A>G (TTN-AS1)
XM_011511729.1:c.105476T>C (TTN)	XP_011510031.1:p.Ile35159Thr
XM_011511730.1:c.79370T>C (TTN)	XP_011510032.1:p.Ile26457Thr
XM_011511731.1:c.79229T>C (TTN)	XP_011510033.1:p.Ile26410Thr
XM_017004819.1:c.105272T>C (TTN)	XP_016860308.1:p.Ile35091Thr
XM_017004820.1:c.100670T>C (TTN)	XP_016860309.1:p.Ile33557Thr
XM_017004821.1:c.100667T>C (TTN)	XP_016860310.1:p.Ile33556Thr
XM_017004822.1:c.97709T>C (TTN)	XP_016860311.1:p.Ile32570Thr
XM_017004823.1:c.79325T>C (TTN)	XP_016860312.1:p.Ile26442Thr
XM_024453094.1:c.100820T>C (TTN)	XP_024308862.1:p.Ile33607Thr
XM_024453095.1:c.100817T>C (TTN)	XP_024308863.1:p.Ile33606Thr
XM_024453096.1:c.100250T>C (TTN)	XP_024308864.1:p.Ile33417Thr
XM_024453097.1:c.97592T>C (TTN)	XP_024308865.1:p.Ile32531Thr
XM_024453098.1:c.97511T>C (TTN)	XP_024308866.1:p.Ile32504Thr
XM_024453099.1:c.79274T>C (TTN)	XP_024308867.1:p.Ile26425Thr
XM_024453100.1:c.69128T>C (TTN)	XP_024308868.1:p.Ile23043Thr