Canonical Allele Identifier: CA349427800

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1482941539
• gnomAD v2: 2-179402305-A-C
• MyVariant Identifiers: chr2:g.179402305A>C (hg19) ; chr2:g.178537578A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537578A>C , CM000664.2:g.178537578A>C	GRCh38
NC_000002.11:g.179402305A>C , CM000664.1:g.179402305A>C	GRCh37
NC_000002.10:g.179110551A>C	NCBI36
NG_011618.3:g.298225T>G , LRG_391:g.298225T>G
NG_051363.1:g.19752A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.91925T>G (TTN)	ENSP00000343764.6:p.Val30642Gly
ENST00000342175.11:c.73010T>G (TTN)	ENSP00000340554.6:p.Val24337Gly
ENST00000359218.10:c.72809T>G (TTN)	ENSP00000352154.5:p.Val24270Gly
ENST00000342175.10:c.73010T>G (TTN)	ENSP00000340554.6:p.Val24337Gly
ENST00000342992.10:c.91925T>G (TTN)	ENSP00000343764.6:p.Val30642Gly
ENST00000359218.9:c.72809T>G (TTN)	ENSP00000352154.5:p.Val24270Gly
ENST00000460472.6:c.72434T>G (TTN)	ENSP00000434586.1:p.Val24145Gly
ENST00000589042.5:c.99629T>G (TTN) MANE Select	ENSP00000467141.1:p.Val33210Gly
ENST00000591111.5:c.94706T>G (TTN)	ENSP00000465570.1:p.Val31569Gly
ENST00000615779.4:c.94706T>G (TTN)	ENSP00000483597.1:p.Val31569Gly
NM_001256850.1:c.94706T>G (TTN)	NP_001243779.1:p.Val31569Gly
NM_001267550.2:c.99629T>G (TTN) MANE Select	NP_001254479.2:p.Val33210Gly
NM_003319.4:c.72434T>G (TTN)	NP_003310.4:p.Val24145Gly
NM_133378.4:c.91925T>G (TTN)	NP_596869.4:p.Val30642Gly
NM_133432.3:c.72809T>G (TTN)	NP_597676.3:p.Val24270Gly
NM_133437.4:c.73010T>G (TTN)	NP_597681.4:p.Val24337Gly
NR_038271.1:n.446+13942A>C (TTN-AS1)
NR_038272.1:n.534A>C (TTN-AS1)
XM_011511729.1:c.98726T>G (TTN)	XP_011510031.1:p.Val32909Gly
XM_011511730.1:c.72620T>G (TTN)	XP_011510032.1:p.Val24207Gly
XM_011511731.1:c.72479T>G (TTN)	XP_011510033.1:p.Val24160Gly
XM_017004819.1:c.98522T>G (TTN)	XP_016860308.1:p.Val32841Gly
XM_017004820.1:c.93920T>G (TTN)	XP_016860309.1:p.Val31307Gly
XM_017004821.1:c.93917T>G (TTN)	XP_016860310.1:p.Val31306Gly
XM_017004822.1:c.90959T>G (TTN)	XP_016860311.1:p.Val30320Gly
XM_017004823.1:c.72575T>G (TTN)	XP_016860312.1:p.Val24192Gly
XM_024453094.1:c.94070T>G (TTN)	XP_024308862.1:p.Val31357Gly
XM_024453095.1:c.94067T>G (TTN)	XP_024308863.1:p.Val31356Gly
XM_024453096.1:c.93500T>G (TTN)	XP_024308864.1:p.Val31167Gly
XM_024453097.1:c.90842T>G (TTN)	XP_024308865.1:p.Val30281Gly
XM_024453098.1:c.90761T>G (TTN)	XP_024308866.1:p.Val30254Gly
XM_024453099.1:c.72524T>G (TTN)	XP_024308867.1:p.Val24175Gly
XM_024453100.1:c.62378T>G (TTN)	XP_024308868.1:p.Val20793Gly