Canonical Allele Identifier: CA349427100

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179401890C>G (hg19) ; chr2:g.178537163C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537163C>G , CM000664.2:g.178537163C>G	GRCh38
NC_000002.11:g.179401890C>G , CM000664.1:g.179401890C>G	GRCh37
NC_000002.10:g.179110136C>G	NCBI36
NG_011618.3:g.298640G>C , LRG_391:g.298640G>C
NG_051363.1:g.19337C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92242G>C (TTN)	ENSP00000343764.6:p.Ala30748Pro
ENST00000342175.11:c.73327G>C (TTN)	ENSP00000340554.6:p.Ala24443Pro
ENST00000359218.10:c.73126G>C (TTN)	ENSP00000352154.5:p.Ala24376Pro
ENST00000342175.10:c.73327G>C (TTN)	ENSP00000340554.6:p.Ala24443Pro
ENST00000342992.10:c.92242G>C (TTN)	ENSP00000343764.6:p.Ala30748Pro
ENST00000359218.9:c.73126G>C (TTN)	ENSP00000352154.5:p.Ala24376Pro
ENST00000460472.6:c.72751G>C (TTN)	ENSP00000434586.1:p.Ala24251Pro
ENST00000589042.5:c.99946G>C (TTN) MANE Select	ENSP00000467141.1:p.Ala33316Pro
ENST00000591111.5:c.95023G>C (TTN)	ENSP00000465570.1:p.Ala31675Pro
ENST00000615779.4:c.95023G>C (TTN)	ENSP00000483597.1:p.Ala31675Pro
NM_001256850.1:c.95023G>C (TTN)	NP_001243779.1:p.Ala31675Pro
NM_001267550.2:c.99946G>C (TTN) MANE Select	NP_001254479.2:p.Ala33316Pro
NM_003319.4:c.72751G>C (TTN)	NP_003310.4:p.Ala24251Pro
NM_133378.4:c.92242G>C (TTN)	NP_596869.4:p.Ala30748Pro
NM_133432.3:c.73126G>C (TTN)	NP_597676.3:p.Ala24376Pro
NM_133437.4:c.73327G>C (TTN)	NP_597681.4:p.Ala24443Pro
NR_038271.1:n.446+13527C>G (TTN-AS1)
NR_038272.1:n.317-198C>G (TTN-AS1)
XM_011511729.1:c.99043G>C (TTN)	XP_011510031.1:p.Ala33015Pro
XM_011511730.1:c.72937G>C (TTN)	XP_011510032.1:p.Ala24313Pro
XM_011511731.1:c.72796G>C (TTN)	XP_011510033.1:p.Ala24266Pro
XM_017004819.1:c.98839G>C (TTN)	XP_016860308.1:p.Ala32947Pro
XM_017004820.1:c.94237G>C (TTN)	XP_016860309.1:p.Ala31413Pro
XM_017004821.1:c.94234G>C (TTN)	XP_016860310.1:p.Ala31412Pro
XM_017004822.1:c.91276G>C (TTN)	XP_016860311.1:p.Ala30426Pro
XM_017004823.1:c.72892G>C (TTN)	XP_016860312.1:p.Ala24298Pro
XM_024453094.1:c.94387G>C (TTN)	XP_024308862.1:p.Ala31463Pro
XM_024453095.1:c.94384G>C (TTN)	XP_024308863.1:p.Ala31462Pro
XM_024453096.1:c.93817G>C (TTN)	XP_024308864.1:p.Ala31273Pro
XM_024453097.1:c.91159G>C (TTN)	XP_024308865.1:p.Ala30387Pro
XM_024453098.1:c.91078G>C (TTN)	XP_024308866.1:p.Ala30360Pro
XM_024453099.1:c.72841G>C (TTN)	XP_024308867.1:p.Ala24281Pro
XM_024453100.1:c.62695G>C (TTN)	XP_024308868.1:p.Ala20899Pro