Canonical Allele Identifier: CA349480081

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178591015-T-C
• MyVariant Identifiers: chr2:g.179455742T>C (hg19) ; chr2:g.178591015T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591015T>C , CM000664.2:g.178591015T>C	GRCh38
NC_000002.11:g.179455742T>C , CM000664.1:g.179455742T>C	GRCh37
NC_000002.10:g.179163988T>C	NCBI36
NG_011618.3:g.244788A>G , LRG_391:g.244788A>G
NG_051363.1:g.73189T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53006A>G (TTN)	ENSP00000343764.6:p.Gln17669Arg
ENST00000342175.11:c.34091A>G (TTN)	ENSP00000340554.6:p.Gln11364Arg
ENST00000359218.10:c.33890A>G (TTN)	ENSP00000352154.5:p.Gln11297Arg
ENST00000342175.10:c.34091A>G (TTN)	ENSP00000340554.6:p.Gln11364Arg
ENST00000342992.10:c.53006A>G (TTN)	ENSP00000343764.6:p.Gln17669Arg
ENST00000359218.9:c.33890A>G (TTN)	ENSP00000352154.5:p.Gln11297Arg
ENST00000460472.6:c.33515A>G (TTN)	ENSP00000434586.1:p.Gln11172Arg
ENST00000589042.5:c.60710A>G (TTN) MANE Select	ENSP00000467141.1:p.Gln20237Arg
ENST00000591111.5:c.55787A>G (TTN)	ENSP00000465570.1:p.Gln18596Arg
ENST00000615779.4:c.55787A>G (TTN)	ENSP00000483597.1:p.Gln18596Arg
NM_001256850.1:c.55787A>G (TTN)	NP_001243779.1:p.Gln18596Arg
NM_001267550.2:c.60710A>G (TTN) MANE Select	NP_001254479.2:p.Gln20237Arg
NM_003319.4:c.33515A>G (TTN)	NP_003310.4:p.Gln11172Arg
NM_133378.4:c.53006A>G (TTN)	NP_596869.4:p.Gln17669Arg
NM_133432.3:c.33890A>G (TTN)	NP_597676.3:p.Gln11297Arg
NM_133437.4:c.34091A>G (TTN)	NP_597681.4:p.Gln11364Arg
NR_038271.1:n.597-6581T>C (TTN-AS1)
NR_038272.1:n.3189-124T>C (TTN-AS1)
XM_011511729.1:c.59807A>G (TTN)	XP_011510031.1:p.Gln19936Arg
XM_011511730.1:c.33701A>G (TTN)	XP_011510032.1:p.Gln11234Arg
XM_011511731.1:c.33560A>G (TTN)	XP_011510033.1:p.Gln11187Arg
XM_017004819.1:c.59603A>G (TTN)	XP_016860308.1:p.Gln19868Arg
XM_017004820.1:c.55001A>G (TTN)	XP_016860309.1:p.Gln18334Arg
XM_017004821.1:c.54998A>G (TTN)	XP_016860310.1:p.Gln18333Arg
XM_017004822.1:c.52040A>G (TTN)	XP_016860311.1:p.Gln17347Arg
XM_017004823.1:c.33656A>G (TTN)	XP_016860312.1:p.Gln11219Arg
XM_024453094.1:c.55151A>G (TTN)	XP_024308862.1:p.Gln18384Arg
XM_024453095.1:c.55148A>G (TTN)	XP_024308863.1:p.Gln18383Arg
XM_024453096.1:c.54581A>G (TTN)	XP_024308864.1:p.Gln18194Arg
XM_024453097.1:c.51923A>G (TTN)	XP_024308865.1:p.Gln17308Arg
XM_024453098.1:c.51842A>G (TTN)	XP_024308866.1:p.Gln17281Arg
XM_024453099.1:c.33605A>G (TTN)	XP_024308867.1:p.Gln11202Arg
XM_024453100.1:c.23459A>G (TTN)	XP_024308868.1:p.Gln7820Arg