Canonical Allele Identifier: CA139384

Gene: TTN

Linked Data

• ClinVar Variation Id: 46862
• ClinVar RCV Id: RCV000868229 ; RCV001719765 ; RCV003486580 ; RCV000040132
• dbSNP Id: rs371121439
• ExAC: 2:179552961 A / G
• gnomAD v2: 2-179552961-A-G
• gnomAD v3: 2-178688234-A-G
• gnomAD v4: 2-178688234-A-G
• MyVariant Identifiers: chr2:g.179552961A>G (hg19) ; chr2:g.178688234A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178688234A>G , CM000664.2:g.178688234A>G	GRCh38
NC_000002.11:g.179552961A>G , CM000664.1:g.179552961A>G	GRCh37
NC_000002.10:g.179261206A>G	NCBI36
NG_011618.3:g.147569T>C , LRG_391:g.147569T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.28466-10T>C	ENSP00000343764.6:n.28466-10T>C
ENST00000342175.11:c.13859-45917T>C	ENSP00000340554.6:n.13859-45917T>C
ENST00000359218.10:c.13658-45917T>C	ENSP00000352154.5:n.13658-45917T>C
ENST00000342175.10:c.13859-45917T>C	ENSP00000340554.6:n.13859-45917T>C
ENST00000342992.10:c.28466-10T>C	ENSP00000343764.6:n.28466-10T>C
ENST00000359218.9:c.13658-45917T>C	ENSP00000352154.5:n.13658-45917T>C
ENST00000414766.5:c.1729+819T>C	ENSP00000401501.1:n.1729+819T>C
ENST00000460472.6:c.13283-45917T>C	ENSP00000434586.1:n.13283-45917T>C
ENST00000589042.5:c.32198-10T>C MANE Select	ENSP00000467141.1:n.32198-10T>C
ENST00000591111.5:c.31247-10T>C	ENSP00000465570.1:n.31247-10T>C
ENST00000615779.4:c.31247-10T>C	ENSP00000483597.1:n.31247-10T>C
NM_001256850.1:c.31247-10T>C	NP_001243779.1:n.31247-10T>C
NM_001267550.2:c.32198-10T>C MANE Select	NP_001254479.2:n.32198-10T>C
NM_003319.4:c.13283-45917T>C	NP_003310.4:n.13283-45917T>C
NM_133378.4:c.28466-10T>C	NP_596869.4:n.28466-10T>C
NM_133432.3:c.13658-45917T>C	NP_597676.3:n.13658-45917T>C
NM_133437.4:c.13859-45917T>C	NP_597681.4:n.13859-45917T>C
XM_011511729.1:c.31295-10T>C	XP_011510031.1:n.31295-10T>C
XM_011511730.1:c.13469-45917T>C	XP_011510032.1:n.13469-45917T>C
XM_011511731.1:c.13328-45917T>C	XP_011510033.1:n.13328-45917T>C
XM_017004819.1:c.31250-10T>C	XP_016860308.1:n.31250-10T>C
XM_017004820.1:c.28469-10T>C	XP_016860309.1:n.28469-10T>C
XM_017004821.1:c.28466-10T>C	XP_016860310.1:n.28466-10T>C
XM_017004822.1:c.31147+819T>C	XP_016860311.1:n.31147+819T>C
XM_017004823.1:c.13424-45917T>C	XP_016860312.1:n.13424-45917T>C
XM_024453094.1:c.31250-10T>C	XP_024308862.1:n.31250-10T>C
XM_024453095.1:c.31250-10T>C	XP_024308863.1:n.31250-10T>C
XM_024453096.1:c.31250-10T>C	XP_024308864.1:n.31250-10T>C
XM_024453097.1:c.30898+1579T>C	XP_024308865.1:n.30898+1579T>C
XM_024453098.1:c.30898+1579T>C	XP_024308866.1:n.30898+1579T>C
XM_024453099.1:c.13424-45917T>C	XP_024308867.1:n.13424-45917T>C