Canonical Allele Identifier: CA430274470

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178618050-G-A
• MyVariant Identifiers: chr2:g.179482777G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618050G>A , CM000664.2:g.178618050G>A	GRCh38
NC_000002.11:g.179482777G>A , CM000664.1:g.179482777G>A	GRCh37
NC_000002.10:g.179191022G>A	NCBI36
NG_011618.3:g.217753C>T , LRG_391:g.217753C>T
NG_051363.1:g.100224G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39597C>T (TTN)	ENSP00000343764.6:p.Ile13199=
ENST00000342175.11:c.20682C>T (TTN)	ENSP00000340554.6:p.Ile6894=
ENST00000359218.10:c.20481C>T (TTN)	ENSP00000352154.5:p.Ile6827=
ENST00000342175.10:c.20682C>T (TTN)	ENSP00000340554.6:p.Ile6894=
ENST00000342992.10:c.39597C>T (TTN)	ENSP00000343764.6:p.Ile13199=
ENST00000359218.9:c.20481C>T (TTN)	ENSP00000352154.5:p.Ile6827=
ENST00000460472.6:c.20106C>T (TTN)	ENSP00000434586.1:p.Ile6702=
ENST00000589042.5:c.47301C>T (TTN) MANE Select	ENSP00000467141.1:p.Ile15767=
ENST00000591111.5:c.42378C>T (TTN)	ENSP00000465570.1:p.Ile14126=
ENST00000615779.4:c.42378C>T (TTN)	ENSP00000483597.1:p.Ile14126=
NM_001256850.1:c.42378C>T (TTN)	NP_001243779.1:p.Ile14126=
NM_001267550.2:c.47301C>T (TTN) MANE Select	NP_001254479.2:p.Ile15767=
NM_003319.4:c.20106C>T (TTN)	NP_003310.4:p.Ile6702=
NM_133378.4:c.39597C>T (TTN)	NP_596869.4:p.Ile13199=
NM_133432.3:c.20481C>T (TTN)	NP_597676.3:p.Ile6827=
NM_133437.4:c.20682C>T (TTN)	NP_597681.4:p.Ile6894=
NR_038271.1:n.1605-1703G>A (TTN-AS1)
XM_011511729.1:c.46398C>T (TTN)	XP_011510031.1:p.Ile15466=
XM_011511730.1:c.20292C>T (TTN)	XP_011510032.1:p.Ile6764=
XM_011511731.1:c.20151C>T (TTN)	XP_011510033.1:p.Ile6717=
XM_017004819.1:c.46194C>T (TTN)	XP_016860308.1:p.Ile15398=
XM_017004820.1:c.41592C>T (TTN)	XP_016860309.1:p.Ile13864=
XM_017004821.1:c.41589C>T (TTN)	XP_016860310.1:p.Ile13863=
XM_017004822.1:c.38631C>T (TTN)	XP_016860311.1:p.Ile12877=
XM_017004823.1:c.20247C>T (TTN)	XP_016860312.1:p.Ile6749=
XM_024453094.1:c.41742C>T (TTN)	XP_024308862.1:p.Ile13914=
XM_024453095.1:c.41739C>T (TTN)	XP_024308863.1:p.Ile13913=
XM_024453096.1:c.41172C>T (TTN)	XP_024308864.1:p.Ile13724=
XM_024453097.1:c.38514C>T (TTN)	XP_024308865.1:p.Ile12838=
XM_024453098.1:c.38433C>T (TTN)	XP_024308866.1:p.Ile12811=
XM_024453099.1:c.20196C>T (TTN)	XP_024308867.1:p.Ile6732=
XM_024453100.1:c.10050C>T (TTN)	XP_024308868.1:p.Ile3350=