Canonical Allele Identifier: CA349618576

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482916C>G (hg19) ; chr2:g.178618189C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618189C>G , CM000664.2:g.178618189C>G	GRCh38
NC_000002.11:g.179482916C>G , CM000664.1:g.179482916C>G	GRCh37
NC_000002.10:g.179191161C>G	NCBI36
NG_011618.3:g.217614G>C , LRG_391:g.217614G>C
NG_051363.1:g.100363C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39565G>C (TTN)	ENSP00000343764.6:p.Asp13189His
ENST00000342175.11:c.20650G>C (TTN)	ENSP00000340554.6:p.Asp6884His
ENST00000359218.10:c.20449G>C (TTN)	ENSP00000352154.5:p.Asp6817His
ENST00000342175.10:c.20650G>C (TTN)	ENSP00000340554.6:p.Asp6884His
ENST00000342992.10:c.39565G>C (TTN)	ENSP00000343764.6:p.Asp13189His
ENST00000359218.9:c.20449G>C (TTN)	ENSP00000352154.5:p.Asp6817His
ENST00000460472.6:c.20074G>C (TTN)	ENSP00000434586.1:p.Asp6692His
ENST00000589042.5:c.47269G>C (TTN) MANE Select	ENSP00000467141.1:p.Asp15757His
ENST00000591111.5:c.42346G>C (TTN)	ENSP00000465570.1:p.Asp14116His
ENST00000615779.4:c.42346G>C (TTN)	ENSP00000483597.1:p.Asp14116His
NM_001256850.1:c.42346G>C (TTN)	NP_001243779.1:p.Asp14116His
NM_001267550.2:c.47269G>C (TTN) MANE Select	NP_001254479.2:p.Asp15757His
NM_003319.4:c.20074G>C (TTN)	NP_003310.4:p.Asp6692His
NM_133378.4:c.39565G>C (TTN)	NP_596869.4:p.Asp13189His
NM_133432.3:c.20449G>C (TTN)	NP_597676.3:p.Asp6817His
NM_133437.4:c.20650G>C (TTN)	NP_597681.4:p.Asp6884His
NR_038271.1:n.1605-1564C>G (TTN-AS1)
XM_011511729.1:c.46366G>C (TTN)	XP_011510031.1:p.Asp15456His
XM_011511730.1:c.20260G>C (TTN)	XP_011510032.1:p.Asp6754His
XM_011511731.1:c.20119G>C (TTN)	XP_011510033.1:p.Asp6707His
XM_017004819.1:c.46162G>C (TTN)	XP_016860308.1:p.Asp15388His
XM_017004820.1:c.41560G>C (TTN)	XP_016860309.1:p.Asp13854His
XM_017004821.1:c.41557G>C (TTN)	XP_016860310.1:p.Asp13853His
XM_017004822.1:c.38599G>C (TTN)	XP_016860311.1:p.Asp12867His
XM_017004823.1:c.20215G>C (TTN)	XP_016860312.1:p.Asp6739His
XM_024453094.1:c.41710G>C (TTN)	XP_024308862.1:p.Asp13904His
XM_024453095.1:c.41707G>C (TTN)	XP_024308863.1:p.Asp13903His
XM_024453096.1:c.41140G>C (TTN)	XP_024308864.1:p.Asp13714His
XM_024453097.1:c.38482G>C (TTN)	XP_024308865.1:p.Asp12828His
XM_024453098.1:c.38401G>C (TTN)	XP_024308866.1:p.Asp12801His
XM_024453099.1:c.20164G>C (TTN)	XP_024308867.1:p.Asp6722His
XM_024453100.1:c.10018G>C (TTN)	XP_024308868.1:p.Asp3340His