Canonical Allele Identifier: CA1992443

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 808975
• ClinVar RCV Id: RCV000997435 ; RCV002481786
• dbSNP Id: rs760277470
• ExAC: 2:179455637 G / A
• gnomAD v2: 2-179455637-G-A
• gnomAD v4: 2-178590910-G-A
• MyVariant Identifiers: chr2:g.179455637G>A (hg19) ; chr2:g.178590910G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178590910G>A , CM000664.2:g.178590910G>A	GRCh38
NC_000002.11:g.179455637G>A , CM000664.1:g.179455637G>A	GRCh37
NC_000002.10:g.179163883G>A	NCBI36
NG_011618.3:g.244893C>T , LRG_391:g.244893C>T
NG_051363.1:g.73084G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53111C>T (TTN)	ENSP00000343764.6:p.Pro17704Leu
ENST00000342175.11:c.34196C>T (TTN)	ENSP00000340554.6:p.Pro11399Leu
ENST00000359218.10:c.33995C>T (TTN)	ENSP00000352154.5:p.Pro11332Leu
ENST00000342175.10:c.34196C>T (TTN)	ENSP00000340554.6:p.Pro11399Leu
ENST00000342992.10:c.53111C>T (TTN)	ENSP00000343764.6:p.Pro17704Leu
ENST00000359218.9:c.33995C>T (TTN)	ENSP00000352154.5:p.Pro11332Leu
ENST00000460472.6:c.33620C>T (TTN)	ENSP00000434586.1:p.Pro11207Leu
ENST00000589042.5:c.60815C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro20272Leu
ENST00000591111.5:c.55892C>T (TTN)	ENSP00000465570.1:p.Pro18631Leu
ENST00000615779.4:c.55892C>T (TTN)	ENSP00000483597.1:p.Pro18631Leu
NM_001256850.1:c.55892C>T (TTN)	NP_001243779.1:p.Pro18631Leu
NM_001267550.2:c.60815C>T (TTN) MANE Select	NP_001254479.2:p.Pro20272Leu
NM_003319.4:c.33620C>T (TTN)	NP_003310.4:p.Pro11207Leu
NM_133378.4:c.53111C>T (TTN)	NP_596869.4:p.Pro17704Leu
NM_133432.3:c.33995C>T (TTN)	NP_597676.3:p.Pro11332Leu
NM_133437.4:c.34196C>T (TTN)	NP_597681.4:p.Pro11399Leu
NR_038271.1:n.597-6686G>A (TTN-AS1)
NR_038272.1:n.3189-229G>A (TTN-AS1)
XM_011511729.1:c.59912C>T (TTN)	XP_011510031.1:p.Pro19971Leu
XM_011511730.1:c.33806C>T (TTN)	XP_011510032.1:p.Pro11269Leu
XM_011511731.1:c.33665C>T (TTN)	XP_011510033.1:p.Pro11222Leu
XM_017004819.1:c.59708C>T (TTN)	XP_016860308.1:p.Pro19903Leu
XM_017004820.1:c.55106C>T (TTN)	XP_016860309.1:p.Pro18369Leu
XM_017004821.1:c.55103C>T (TTN)	XP_016860310.1:p.Pro18368Leu
XM_017004822.1:c.52145C>T (TTN)	XP_016860311.1:p.Pro17382Leu
XM_017004823.1:c.33761C>T (TTN)	XP_016860312.1:p.Pro11254Leu
XM_024453094.1:c.55256C>T (TTN)	XP_024308862.1:p.Pro18419Leu
XM_024453095.1:c.55253C>T (TTN)	XP_024308863.1:p.Pro18418Leu
XM_024453096.1:c.54686C>T (TTN)	XP_024308864.1:p.Pro18229Leu
XM_024453097.1:c.52028C>T (TTN)	XP_024308865.1:p.Pro17343Leu
XM_024453098.1:c.51947C>T (TTN)	XP_024308866.1:p.Pro17316Leu
XM_024453099.1:c.33710C>T (TTN)	XP_024308867.1:p.Pro11237Leu
XM_024453100.1:c.23564C>T (TTN)	XP_024308868.1:p.Pro7855Leu