Canonical Allele Identifier: CA240203

Gene: TTN

Linked Data

• ClinVar Variation Id: 194301
• ClinVar RCV Id: RCV000174638 ; RCV000559362 ; RCV000724749 ; RCV002467644 ; RCV004539618
• dbSNP Id: rs373367032
• ExAC: 2:179545801 T / G
• gnomAD v2: 2-179545801-T-G
• gnomAD v3: 2-178681074-T-G
• gnomAD v4: 2-178681074-T-G
• MyVariant Identifiers: chr2:g.179545801T>G (hg19) ; chr2:g.178681074T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178681074T>G , CM000664.2:g.178681074T>G	GRCh38
NC_000002.11:g.179545801T>G , CM000664.1:g.179545801T>G	GRCh37
NC_000002.10:g.179254046T>G	NCBI36
NG_011618.3:g.154729A>C , LRG_391:g.154729A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.29608+5A>C	ENSP00000343764.6:n.29608+5A>C
ENST00000342175.11:c.13859-38757A>C	ENSP00000340554.6:n.13859-38757A>C
ENST00000359218.10:c.13658-38757A>C	ENSP00000352154.5:n.13658-38757A>C
ENST00000342175.10:c.13859-38757A>C	ENSP00000340554.6:n.13859-38757A>C
ENST00000342992.10:c.29608+5A>C	ENSP00000343764.6:n.29608+5A>C
ENST00000359218.9:c.13658-38757A>C	ENSP00000352154.5:n.13658-38757A>C
ENST00000414766.5:c.2014+587A>C	ENSP00000401501.1:n.2014+587A>C
ENST00000460472.6:c.13283-38757A>C	ENSP00000434586.1:n.13283-38757A>C
ENST00000589042.5:c.33340+5A>C MANE Select	ENSP00000467141.1:n.33340+5A>C
ENST00000591111.5:c.32389+5A>C	ENSP00000465570.1:n.32389+5A>C
ENST00000615779.4:c.32389+5A>C	ENSP00000483597.1:n.32389+5A>C
NM_001256850.1:c.32389+5A>C	NP_001243779.1:n.32389+5A>C
NM_001267550.2:c.33340+5A>C MANE Select	NP_001254479.2:n.33340+5A>C
NM_003319.4:c.13283-38757A>C	NP_003310.4:n.13283-38757A>C
NM_133378.4:c.29608+5A>C	NP_596869.4:n.29608+5A>C
NM_133432.3:c.13658-38757A>C	NP_597676.3:n.13658-38757A>C
NM_133437.4:c.13859-38757A>C	NP_597681.4:n.13859-38757A>C
XM_011511729.1:c.32437+5A>C	XP_011510031.1:n.32437+5A>C
XM_011511730.1:c.13469-38757A>C	XP_011510032.1:n.13469-38757A>C
XM_011511731.1:c.13328-38757A>C	XP_011510033.1:n.13328-38757A>C
XM_017004819.1:c.32392+5A>C	XP_016860308.1:n.32392+5A>C
XM_017004820.1:c.29611+5A>C	XP_016860309.1:n.29611+5A>C
XM_017004821.1:c.29608+5A>C	XP_016860310.1:n.29608+5A>C
XM_017004822.1:c.31432+587A>C	XP_016860311.1:n.31432+587A>C
XM_017004823.1:c.13424-38757A>C	XP_016860312.1:n.13424-38757A>C
XM_024453094.1:c.32392+5A>C	XP_024308862.1:n.32392+5A>C
XM_024453095.1:c.32392+5A>C	XP_024308863.1:n.32392+5A>C
XM_024453096.1:c.32224+587A>C	XP_024308864.1:n.32224+587A>C
XM_024453097.1:c.31264+587A>C	XP_024308865.1:n.31264+587A>C
XM_024453098.1:c.31183+587A>C	XP_024308866.1:n.31183+587A>C
XM_024453099.1:c.13424-38757A>C	XP_024308867.1:n.13424-38757A>C