Canonical Allele Identifier: CA349635729

Gene: TTN

Linked Data

• dbSNP Id: rs2154212133
• gnomAD v3: 2-178621648-G-A
• gnomAD v4: 2-178621648-G-A
• MyVariant Identifiers: chr2:g.179486375G>A (hg19) ; chr2:g.178621648G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178621648G>A , CM000664.2:g.178621648G>A	GRCh38
NC_000002.11:g.179486375G>A , CM000664.1:g.179486375G>A	GRCh37
NC_000002.10:g.179194620G>A	NCBI36
NG_011618.3:g.214155C>T , LRG_391:g.214155C>T
NG_051363.1:g.103822G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.37472C>T	ENSP00000343764.6:p.Ala12491Val
ENST00000342175.11:c.18557C>T	ENSP00000340554.6:p.Ala6186Val
ENST00000359218.10:c.18356C>T	ENSP00000352154.5:p.Ala6119Val
ENST00000342175.10:c.18557C>T	ENSP00000340554.6:p.Ala6186Val
ENST00000342992.10:c.37472C>T	ENSP00000343764.6:p.Ala12491Val
ENST00000359218.9:c.18356C>T	ENSP00000352154.5:p.Ala6119Val
ENST00000460472.6:c.17981C>T	ENSP00000434586.1:p.Ala5994Val
ENST00000589042.5:c.45176C>T MANE Select	ENSP00000467141.1:p.Ala15059Val
ENST00000591111.5:c.40253C>T	ENSP00000465570.1:p.Ala13418Val
ENST00000615779.4:c.40253C>T	ENSP00000483597.1:p.Ala13418Val
NM_001256850.1:c.40253C>T	NP_001243779.1:p.Ala13418Val
NM_001267550.2:c.45176C>T MANE Select	NP_001254479.2:p.Ala15059Val
NM_003319.4:c.17981C>T	NP_003310.4:p.Ala5994Val
NM_133378.4:c.37472C>T	NP_596869.4:p.Ala12491Val
NM_133432.3:c.18356C>T	NP_597676.3:p.Ala6119Val
NM_133437.4:c.18557C>T	NP_597681.4:p.Ala6186Val
XM_011511729.1:c.44273C>T	XP_011510031.1:p.Ala14758Val
XM_011511730.1:c.18167C>T	XP_011510032.1:p.Ala6056Val
XM_011511731.1:c.18026C>T	XP_011510033.1:p.Ala6009Val
XM_017004819.1:c.44069C>T	XP_016860308.1:p.Ala14690Val
XM_017004820.1:c.39467C>T	XP_016860309.1:p.Ala13156Val
XM_017004821.1:c.39464C>T	XP_016860310.1:p.Ala13155Val
XM_017004822.1:c.36506C>T	XP_016860311.1:p.Ala12169Val
XM_017004823.1:c.18122C>T	XP_016860312.1:p.Ala6041Val
XM_024453094.1:c.39617C>T	XP_024308862.1:p.Ala13206Val
XM_024453095.1:c.39614C>T	XP_024308863.1:p.Ala13205Val
XM_024453096.1:c.39047C>T	XP_024308864.1:p.Ala13016Val
XM_024453097.1:c.36389C>T	XP_024308865.1:p.Ala12130Val
XM_024453098.1:c.36308C>T	XP_024308866.1:p.Ala12103Val
XM_024453099.1:c.18071C>T	XP_024308867.1:p.Ala6024Val
XM_024453100.1:c.7925C>T	XP_024308868.1:p.Ala2642Val