Canonical Allele Identifier: CA349435991

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs748522179
• gnomAD v4: 2-178584578-C-G
• MyVariant Identifiers: chr2:g.179449305C>G (hg19) ; chr2:g.178584578C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584578C>G , CM000664.2:g.178584578C>G	GRCh38
NC_000002.11:g.179449305C>G , CM000664.1:g.179449305C>G	GRCh37
NC_000002.10:g.179157551C>G	NCBI36
NG_011618.3:g.251225G>C , LRG_391:g.251225G>C
NG_051363.1:g.66752C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57269G>C (TTN)	ENSP00000343764.6:p.Gly19090Ala
ENST00000342175.11:c.38354G>C (TTN)	ENSP00000340554.6:p.Gly12785Ala
ENST00000359218.10:c.38153G>C (TTN)	ENSP00000352154.5:p.Gly12718Ala
ENST00000342175.10:c.38354G>C (TTN)	ENSP00000340554.6:p.Gly12785Ala
ENST00000342992.10:c.57269G>C (TTN)	ENSP00000343764.6:p.Gly19090Ala
ENST00000359218.9:c.38153G>C (TTN)	ENSP00000352154.5:p.Gly12718Ala
ENST00000460472.6:c.37778G>C (TTN)	ENSP00000434586.1:p.Gly12593Ala
ENST00000589042.5:c.64973G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly21658Ala
ENST00000591111.5:c.60050G>C (TTN)	ENSP00000465570.1:p.Gly20017Ala
ENST00000615779.4:c.60050G>C (TTN)	ENSP00000483597.1:p.Gly20017Ala
NM_001256850.1:c.60050G>C (TTN)	NP_001243779.1:p.Gly20017Ala
NM_001267550.2:c.64973G>C (TTN) MANE Select	NP_001254479.2:p.Gly21658Ala
NM_003319.4:c.37778G>C (TTN)	NP_003310.4:p.Gly12593Ala
NM_133378.4:c.57269G>C (TTN)	NP_596869.4:p.Gly19090Ala
NM_133432.3:c.38153G>C (TTN)	NP_597676.3:p.Gly12718Ala
NM_133437.4:c.38354G>C (TTN)	NP_597681.4:p.Gly12785Ala
NR_038271.1:n.597-13018C>G (TTN-AS1)
NR_038272.1:n.2773C>G (TTN-AS1)
XM_011511729.1:c.64070G>C (TTN)	XP_011510031.1:p.Gly21357Ala
XM_011511730.1:c.37964G>C (TTN)	XP_011510032.1:p.Gly12655Ala
XM_011511731.1:c.37823G>C (TTN)	XP_011510033.1:p.Gly12608Ala
XM_017004819.1:c.63866G>C (TTN)	XP_016860308.1:p.Gly21289Ala
XM_017004820.1:c.59264G>C (TTN)	XP_016860309.1:p.Gly19755Ala
XM_017004821.1:c.59261G>C (TTN)	XP_016860310.1:p.Gly19754Ala
XM_017004822.1:c.56303G>C (TTN)	XP_016860311.1:p.Gly18768Ala
XM_017004823.1:c.37919G>C (TTN)	XP_016860312.1:p.Gly12640Ala
XM_024453094.1:c.59414G>C (TTN)	XP_024308862.1:p.Gly19805Ala
XM_024453095.1:c.59411G>C (TTN)	XP_024308863.1:p.Gly19804Ala
XM_024453096.1:c.58844G>C (TTN)	XP_024308864.1:p.Gly19615Ala
XM_024453097.1:c.56186G>C (TTN)	XP_024308865.1:p.Gly18729Ala
XM_024453098.1:c.56105G>C (TTN)	XP_024308866.1:p.Gly18702Ala
XM_024453099.1:c.37868G>C (TTN)	XP_024308867.1:p.Gly12623Ala
XM_024453100.1:c.27722G>C (TTN)	XP_024308868.1:p.Gly9241Ala