Canonical Allele Identifier: CA349427059

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs775769503
• gnomAD v3: 2-178537143-C-G
• gnomAD v4: 2-178537143-C-G
• MyVariant Identifiers: chr2:g.179401870C>G (hg19) ; chr2:g.178537143C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537143C>G , CM000664.2:g.178537143C>G	GRCh38
NC_000002.11:g.179401870C>G , CM000664.1:g.179401870C>G	GRCh37
NC_000002.10:g.179110116C>G	NCBI36
NG_011618.3:g.298660G>C , LRG_391:g.298660G>C
NG_051363.1:g.19317C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.92262G>C (TTN)	ENSP00000343764.6:p.Trp30754Cys
ENST00000342175.11:c.73347G>C (TTN)	ENSP00000340554.6:p.Trp24449Cys
ENST00000359218.10:c.73146G>C (TTN)	ENSP00000352154.5:p.Trp24382Cys
ENST00000342175.10:c.73347G>C (TTN)	ENSP00000340554.6:p.Trp24449Cys
ENST00000342992.10:c.92262G>C (TTN)	ENSP00000343764.6:p.Trp30754Cys
ENST00000359218.9:c.73146G>C (TTN)	ENSP00000352154.5:p.Trp24382Cys
ENST00000460472.6:c.72771G>C (TTN)	ENSP00000434586.1:p.Trp24257Cys
ENST00000589042.5:c.99966G>C (TTN) MANE Select	ENSP00000467141.1:p.Trp33322Cys
ENST00000591111.5:c.95043G>C (TTN)	ENSP00000465570.1:p.Trp31681Cys
ENST00000615779.4:c.95043G>C (TTN)	ENSP00000483597.1:p.Trp31681Cys
NM_001256850.1:c.95043G>C (TTN)	NP_001243779.1:p.Trp31681Cys
NM_001267550.2:c.99966G>C (TTN) MANE Select	NP_001254479.2:p.Trp33322Cys
NM_003319.4:c.72771G>C (TTN)	NP_003310.4:p.Trp24257Cys
NM_133378.4:c.92262G>C (TTN)	NP_596869.4:p.Trp30754Cys
NM_133432.3:c.73146G>C (TTN)	NP_597676.3:p.Trp24382Cys
NM_133437.4:c.73347G>C (TTN)	NP_597681.4:p.Trp24449Cys
NR_038271.1:n.446+13507C>G (TTN-AS1)
NR_038272.1:n.317-218C>G (TTN-AS1)
XM_011511729.1:c.99063G>C (TTN)	XP_011510031.1:p.Trp33021Cys
XM_011511730.1:c.72957G>C (TTN)	XP_011510032.1:p.Trp24319Cys
XM_011511731.1:c.72816G>C (TTN)	XP_011510033.1:p.Trp24272Cys
XM_017004819.1:c.98859G>C (TTN)	XP_016860308.1:p.Trp32953Cys
XM_017004820.1:c.94257G>C (TTN)	XP_016860309.1:p.Trp31419Cys
XM_017004821.1:c.94254G>C (TTN)	XP_016860310.1:p.Trp31418Cys
XM_017004822.1:c.91296G>C (TTN)	XP_016860311.1:p.Trp30432Cys
XM_017004823.1:c.72912G>C (TTN)	XP_016860312.1:p.Trp24304Cys
XM_024453094.1:c.94407G>C (TTN)	XP_024308862.1:p.Trp31469Cys
XM_024453095.1:c.94404G>C (TTN)	XP_024308863.1:p.Trp31468Cys
XM_024453096.1:c.93837G>C (TTN)	XP_024308864.1:p.Trp31279Cys
XM_024453097.1:c.91179G>C (TTN)	XP_024308865.1:p.Trp30393Cys
XM_024453098.1:c.91098G>C (TTN)	XP_024308866.1:p.Trp30366Cys
XM_024453099.1:c.72861G>C (TTN)	XP_024308867.1:p.Trp24287Cys
XM_024453100.1:c.62715G>C (TTN)	XP_024308868.1:p.Trp20905Cys