Canonical Allele Identifier: CA349446112

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408032C>G (hg19) ; chr2:g.178543305C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543305C>G , CM000664.2:g.178543305C>G	GRCh38
NC_000002.11:g.179408032C>G , CM000664.1:g.179408032C>G	GRCh37
NC_000002.10:g.179116278C>G	NCBI36
NG_011618.3:g.292498G>C , LRG_391:g.292498G>C
NG_051363.1:g.25479C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88964G>C (TTN)	ENSP00000343764.6:p.Trp29655Ser
ENST00000342175.11:c.70049G>C (TTN)	ENSP00000340554.6:p.Trp23350Ser
ENST00000359218.10:c.69848G>C (TTN)	ENSP00000352154.5:p.Trp23283Ser
ENST00000342175.10:c.70049G>C (TTN)	ENSP00000340554.6:p.Trp23350Ser
ENST00000342992.10:c.88964G>C (TTN)	ENSP00000343764.6:p.Trp29655Ser
ENST00000359218.9:c.69848G>C (TTN)	ENSP00000352154.5:p.Trp23283Ser
ENST00000460472.6:c.69473G>C (TTN)	ENSP00000434586.1:p.Trp23158Ser
ENST00000589042.5:c.96668G>C (TTN) MANE Select	ENSP00000467141.1:p.Trp32223Ser
ENST00000591111.5:c.91745G>C (TTN)	ENSP00000465570.1:p.Trp30582Ser
ENST00000615779.4:c.91745G>C (TTN)	ENSP00000483597.1:p.Trp30582Ser
NM_001256850.1:c.91745G>C (TTN)	NP_001243779.1:p.Trp30582Ser
NM_001267550.2:c.96668G>C (TTN) MANE Select	NP_001254479.2:p.Trp32223Ser
NM_003319.4:c.69473G>C (TTN)	NP_003310.4:p.Trp23158Ser
NM_133378.4:c.88964G>C (TTN)	NP_596869.4:p.Trp29655Ser
NM_133432.3:c.69848G>C (TTN)	NP_597676.3:p.Trp23283Ser
NM_133437.4:c.70049G>C (TTN)	NP_597681.4:p.Trp23350Ser
NR_038271.1:n.446+19669C>G (TTN-AS1)
NR_038272.1:n.2043+944C>G (TTN-AS1)
XM_011511729.1:c.95765G>C (TTN)	XP_011510031.1:p.Trp31922Ser
XM_011511730.1:c.69659G>C (TTN)	XP_011510032.1:p.Trp23220Ser
XM_011511731.1:c.69518G>C (TTN)	XP_011510033.1:p.Trp23173Ser
XM_017004819.1:c.95561G>C (TTN)	XP_016860308.1:p.Trp31854Ser
XM_017004820.1:c.90959G>C (TTN)	XP_016860309.1:p.Trp30320Ser
XM_017004821.1:c.90956G>C (TTN)	XP_016860310.1:p.Trp30319Ser
XM_017004822.1:c.87998G>C (TTN)	XP_016860311.1:p.Trp29333Ser
XM_017004823.1:c.69614G>C (TTN)	XP_016860312.1:p.Trp23205Ser
XM_024453094.1:c.91109G>C (TTN)	XP_024308862.1:p.Trp30370Ser
XM_024453095.1:c.91106G>C (TTN)	XP_024308863.1:p.Trp30369Ser
XM_024453096.1:c.90539G>C (TTN)	XP_024308864.1:p.Trp30180Ser
XM_024453097.1:c.87881G>C (TTN)	XP_024308865.1:p.Trp29294Ser
XM_024453098.1:c.87800G>C (TTN)	XP_024308866.1:p.Trp29267Ser
XM_024453099.1:c.69563G>C (TTN)	XP_024308867.1:p.Trp23188Ser
XM_024453100.1:c.59417G>C (TTN)	XP_024308868.1:p.Trp19806Ser