Canonical Allele Identifier: CA283258

Gene: TTN

Linked Data

• ClinVar Variation Id: 46980
• ClinVar RCV Id: RCV001529823
• dbSNP Id: rs72677222
• ExAC: 2:179486478 T / C
• gnomAD v2: 2-179486478-T-C
• gnomAD v3: 2-178621751-T-C
• gnomAD v4: 2-178621751-T-C
• MyVariant Identifiers: chr2:g.179486478T>C (hg19) ; chr2:g.178621751T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178621751T>C , CM000664.2:g.178621751T>C	GRCh38
NC_000002.11:g.179486478T>C , CM000664.1:g.179486478T>C	GRCh37
NC_000002.10:g.179194723T>C	NCBI36
NG_011618.3:g.214052A>G , LRG_391:g.214052A>G
NG_051363.1:g.103925T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.37379-10A>G	ENSP00000343764.6:n.37379-10A>G
ENST00000342175.11:c.18464-10A>G	ENSP00000340554.6:n.18464-10A>G
ENST00000359218.10:c.18263-10A>G	ENSP00000352154.5:n.18263-10A>G
ENST00000342175.10:c.18464-10A>G	ENSP00000340554.6:n.18464-10A>G
ENST00000342992.10:c.37379-10A>G	ENSP00000343764.6:n.37379-10A>G
ENST00000359218.9:c.18263-10A>G	ENSP00000352154.5:n.18263-10A>G
ENST00000460472.6:c.17888-10A>G	ENSP00000434586.1:n.17888-10A>G
ENST00000589042.5:c.45083-10A>G MANE Select	ENSP00000467141.1:n.45083-10A>G
ENST00000591111.5:c.40160-10A>G	ENSP00000465570.1:n.40160-10A>G
ENST00000615779.4:c.40160-10A>G	ENSP00000483597.1:n.40160-10A>G
NM_001256850.1:c.40160-10A>G	NP_001243779.1:n.40160-10A>G
NM_001267550.2:c.45083-10A>G MANE Select	NP_001254479.2:n.45083-10A>G
NM_003319.4:c.17888-10A>G	NP_003310.4:n.17888-10A>G
NM_133378.4:c.37379-10A>G	NP_596869.4:n.37379-10A>G
NM_133432.3:c.18263-10A>G	NP_597676.3:n.18263-10A>G
NM_133437.4:c.18464-10A>G	NP_597681.4:n.18464-10A>G
XM_011511729.1:c.44180-10A>G	XP_011510031.1:n.44180-10A>G
XM_011511730.1:c.18074-10A>G	XP_011510032.1:n.18074-10A>G
XM_011511731.1:c.17933-10A>G	XP_011510033.1:n.17933-10A>G
XM_017004819.1:c.43976-10A>G	XP_016860308.1:n.43976-10A>G
XM_017004820.1:c.39374-10A>G	XP_016860309.1:n.39374-10A>G
XM_017004821.1:c.39371-10A>G	XP_016860310.1:n.39371-10A>G
XM_017004822.1:c.36413-10A>G	XP_016860311.1:n.36413-10A>G
XM_017004823.1:c.18029-10A>G	XP_016860312.1:n.18029-10A>G
XM_024453094.1:c.39524-10A>G	XP_024308862.1:n.39524-10A>G
XM_024453095.1:c.39521-10A>G	XP_024308863.1:n.39521-10A>G
XM_024453096.1:c.38954-10A>G	XP_024308864.1:n.38954-10A>G
XM_024453097.1:c.36296-10A>G	XP_024308865.1:n.36296-10A>G
XM_024453098.1:c.36215-10A>G	XP_024308866.1:n.36215-10A>G
XM_024453099.1:c.17978-10A>G	XP_024308867.1:n.17978-10A>G
XM_024453100.1:c.7832-10A>G	XP_024308868.1:n.7832-10A>G