Canonical Allele Identifier: CA1987792

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 289077
• ClinVar RCV Id: RCV000262489
• dbSNP Id: rs751359750
• ExAC: 2:179417193 A / G
• gnomAD v2: 2-179417193-A-G
• gnomAD v3: 2-178552466-A-G
• gnomAD v4: 2-178552466-A-G
• MyVariant Identifiers: chr2:g.179417193A>G (hg19) ; chr2:g.178552466A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552466A>G , CM000664.2:g.178552466A>G	GRCh38
NC_000002.11:g.179417193A>G , CM000664.1:g.179417193A>G	GRCh37
NC_000002.10:g.179125439A>G	NCBI36
NG_011618.3:g.283337T>C , LRG_391:g.283337T>C
NG_051363.1:g.34640A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.82730T>C (TTN)	ENSP00000343764.6:p.Ile27577Thr
ENST00000342175.11:c.63815T>C (TTN)	ENSP00000340554.6:p.Ile21272Thr
ENST00000359218.10:c.63614T>C (TTN)	ENSP00000352154.5:p.Ile21205Thr
ENST00000342175.10:c.63815T>C (TTN)	ENSP00000340554.6:p.Ile21272Thr
ENST00000342992.10:c.82730T>C (TTN)	ENSP00000343764.6:p.Ile27577Thr
ENST00000359218.9:c.63614T>C (TTN)	ENSP00000352154.5:p.Ile21205Thr
ENST00000460472.6:c.63239T>C (TTN)	ENSP00000434586.1:p.Ile21080Thr
ENST00000589042.5:c.90434T>C (TTN) MANE Select	ENSP00000467141.1:p.Ile30145Thr
ENST00000591111.5:c.85511T>C (TTN)	ENSP00000465570.1:p.Ile28504Thr
ENST00000615779.4:c.85511T>C (TTN)	ENSP00000483597.1:p.Ile28504Thr
NM_001256850.1:c.85511T>C (TTN)	NP_001243779.1:p.Ile28504Thr
NM_001267550.2:c.90434T>C (TTN) MANE Select	NP_001254479.2:p.Ile30145Thr
NM_003319.4:c.63239T>C (TTN)	NP_003310.4:p.Ile21080Thr
NM_133378.4:c.82730T>C (TTN)	NP_596869.4:p.Ile27577Thr
NM_133432.3:c.63614T>C (TTN)	NP_597676.3:p.Ile21205Thr
NM_133437.4:c.63815T>C (TTN)	NP_597681.4:p.Ile21272Thr
NR_038271.1:n.447-18834A>G (TTN-AS1)
NR_038272.1:n.2043+10105A>G (TTN-AS1)
XM_011511729.1:c.89531T>C (TTN)	XP_011510031.1:p.Ile29844Thr
XM_011511730.1:c.63425T>C (TTN)	XP_011510032.1:p.Ile21142Thr
XM_011511731.1:c.63284T>C (TTN)	XP_011510033.1:p.Ile21095Thr
XM_017004819.1:c.89327T>C (TTN)	XP_016860308.1:p.Ile29776Thr
XM_017004820.1:c.84725T>C (TTN)	XP_016860309.1:p.Ile28242Thr
XM_017004821.1:c.84722T>C (TTN)	XP_016860310.1:p.Ile28241Thr
XM_017004822.1:c.81764T>C (TTN)	XP_016860311.1:p.Ile27255Thr
XM_017004823.1:c.63380T>C (TTN)	XP_016860312.1:p.Ile21127Thr
XM_024453094.1:c.84875T>C (TTN)	XP_024308862.1:p.Ile28292Thr
XM_024453095.1:c.84872T>C (TTN)	XP_024308863.1:p.Ile28291Thr
XM_024453096.1:c.84305T>C (TTN)	XP_024308864.1:p.Ile28102Thr
XM_024453097.1:c.81647T>C (TTN)	XP_024308865.1:p.Ile27216Thr
XM_024453098.1:c.81566T>C (TTN)	XP_024308866.1:p.Ile27189Thr
XM_024453099.1:c.63329T>C (TTN)	XP_024308867.1:p.Ile21110Thr
XM_024453100.1:c.53183T>C (TTN)	XP_024308868.1:p.Ile17728Thr