Canonical Allele Identifier: CA430113981

Gene: TTN

Linked Data

• dbSNP Id: rs1480068000
• gnomAD v2: 2-179523475-T-C
• gnomAD v4: 2-178658748-T-C
• MyVariant Identifiers: chr2:g.179523475T>C (hg19) ; chr2:g.178658748T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178658748T>C , CM000664.2:g.178658748T>C	GRCh38
NC_000002.11:g.179523475T>C , CM000664.1:g.179523475T>C	GRCh37
NC_000002.10:g.179231720T>C	NCBI36
NG_011618.3:g.177055A>G , LRG_391:g.177055A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.31741+257A>G	ENSP00000343764.6:n.31741+257A>G
ENST00000342175.11:c.13859-16431A>G	ENSP00000340554.6:n.13859-16431A>G
ENST00000359218.10:c.13658-16431A>G	ENSP00000352154.5:n.13658-16431A>G
ENST00000342175.10:c.13859-16431A>G	ENSP00000340554.6:n.13859-16431A>G
ENST00000342992.10:c.31741+257A>G	ENSP00000343764.6:n.31741+257A>G
ENST00000359218.9:c.13658-16431A>G	ENSP00000352154.5:n.13658-16431A>G
ENST00000414766.5:c.2440+14885A>G	ENSP00000401501.1:n.2440+14885A>G
ENST00000460472.6:c.13283-16431A>G	ENSP00000434586.1:n.13283-16431A>G
ENST00000589042.5:c.37500A>G MANE Select	ENSP00000467141.1:p.Val12500=
ENST00000591111.5:c.34311A>G	ENSP00000465570.1:p.Val11437=
ENST00000615779.4:c.34522+257A>G	ENSP00000483597.1:n.34522+257A>G
NM_001256850.1:c.34522+257A>G	NP_001243779.1:n.34522+257A>G
NM_001267550.2:c.37500A>G MANE Select	NP_001254479.2:p.Val12500=
NM_003319.4:c.13283-16431A>G	NP_003310.4:n.13283-16431A>G
NM_133378.4:c.31741+257A>G	NP_596869.4:n.31741+257A>G
NM_133432.3:c.13658-16431A>G	NP_597676.3:n.13658-16431A>G
NM_133437.4:c.13859-16431A>G	NP_597681.4:n.13859-16431A>G
XM_011511729.1:c.36597A>G	XP_011510031.1:p.Val12199=
XM_011511730.1:c.13469-16431A>G	XP_011510032.1:n.13469-16431A>G
XM_011511731.1:c.13328-16431A>G	XP_011510033.1:n.13328-16431A>G
XM_017004819.1:c.36393A>G	XP_016860308.1:p.Val12131=
XM_017004820.1:c.31791A>G	XP_016860309.1:p.Val10597=
XM_017004821.1:c.31788A>G	XP_016860310.1:p.Val10596=
XM_017004822.1:c.31858+14885A>G	XP_016860311.1:n.31858+14885A>G
XM_017004823.1:c.13424-16431A>G	XP_016860312.1:n.13424-16431A>G
XM_024453094.1:c.33435A>G	XP_024308862.1:p.Val11145=
XM_024453095.1:c.33432A>G	XP_024308863.1:p.Val11144=
XM_024453096.1:c.32865A>G	XP_024308864.1:p.Val10955=
XM_024453097.1:c.31690+14885A>G	XP_024308865.1:n.31690+14885A>G
XM_024453098.1:c.31609+14885A>G	XP_024308866.1:n.31609+14885A>G
XM_024453099.1:c.13424-16431A>G	XP_024308867.1:n.13424-16431A>G
XM_024453100.1:c.249A>G	XP_024308868.1:p.Val83=