Canonical Allele Identifier: CA349488450

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179456607G>C (hg19) ; chr2:g.178591880G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591880G>C , CM000664.2:g.178591880G>C	GRCh38
NC_000002.11:g.179456607G>C , CM000664.1:g.179456607G>C	GRCh37
NC_000002.10:g.179164853G>C	NCBI36
NG_011618.3:g.243923C>G , LRG_391:g.243923C>G
NG_051363.1:g.74054G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.52235C>G (TTN)	ENSP00000343764.6:p.Pro17412Arg
ENST00000342175.11:c.33320C>G (TTN)	ENSP00000340554.6:p.Pro11107Arg
ENST00000359218.10:c.33119C>G (TTN)	ENSP00000352154.5:p.Pro11040Arg
ENST00000342175.10:c.33320C>G (TTN)	ENSP00000340554.6:p.Pro11107Arg
ENST00000342992.10:c.52235C>G (TTN)	ENSP00000343764.6:p.Pro17412Arg
ENST00000359218.9:c.33119C>G (TTN)	ENSP00000352154.5:p.Pro11040Arg
ENST00000460472.6:c.32744C>G (TTN)	ENSP00000434586.1:p.Pro10915Arg
ENST00000589042.5:c.59939C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro19980Arg
ENST00000591111.5:c.55016C>G (TTN)	ENSP00000465570.1:p.Pro18339Arg
ENST00000615779.4:c.55016C>G (TTN)	ENSP00000483597.1:p.Pro18339Arg
NM_001256850.1:c.55016C>G (TTN)	NP_001243779.1:p.Pro18339Arg
NM_001267550.2:c.59939C>G (TTN) MANE Select	NP_001254479.2:p.Pro19980Arg
NM_003319.4:c.32744C>G (TTN)	NP_003310.4:p.Pro10915Arg
NM_133378.4:c.52235C>G (TTN)	NP_596869.4:p.Pro17412Arg
NM_133432.3:c.33119C>G (TTN)	NP_597676.3:p.Pro11040Arg
NM_133437.4:c.33320C>G (TTN)	NP_597681.4:p.Pro11107Arg
NR_038271.1:n.597-5716G>C (TTN-AS1)
NR_038272.1:n.3364+566G>C (TTN-AS1)
XM_011511729.1:c.59036C>G (TTN)	XP_011510031.1:p.Pro19679Arg
XM_011511730.1:c.32930C>G (TTN)	XP_011510032.1:p.Pro10977Arg
XM_011511731.1:c.32789C>G (TTN)	XP_011510033.1:p.Pro10930Arg
XM_017004819.1:c.58832C>G (TTN)	XP_016860308.1:p.Pro19611Arg
XM_017004820.1:c.54230C>G (TTN)	XP_016860309.1:p.Pro18077Arg
XM_017004821.1:c.54227C>G (TTN)	XP_016860310.1:p.Pro18076Arg
XM_017004822.1:c.51269C>G (TTN)	XP_016860311.1:p.Pro17090Arg
XM_017004823.1:c.32885C>G (TTN)	XP_016860312.1:p.Pro10962Arg
XM_024453094.1:c.54380C>G (TTN)	XP_024308862.1:p.Pro18127Arg
XM_024453095.1:c.54377C>G (TTN)	XP_024308863.1:p.Pro18126Arg
XM_024453096.1:c.53810C>G (TTN)	XP_024308864.1:p.Pro17937Arg
XM_024453097.1:c.51152C>G (TTN)	XP_024308865.1:p.Pro17051Arg
XM_024453098.1:c.51071C>G (TTN)	XP_024308866.1:p.Pro17024Arg
XM_024453099.1:c.32834C>G (TTN)	XP_024308867.1:p.Pro10945Arg
XM_024453100.1:c.22688C>G (TTN)	XP_024308868.1:p.Pro7563Arg