Canonical Allele Identifier: CA349640256

Gene: TTN

Linked Data

• dbSNP Id: rs2058743726
• gnomAD v4: 2-178624497-T-A
• MyVariant Identifiers: chr2:g.179489224T>A (hg19) ; chr2:g.178624497T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178624497T>A , CM000664.2:g.178624497T>A	GRCh38
NC_000002.11:g.179489224T>A , CM000664.1:g.179489224T>A	GRCh37
NC_000002.10:g.179197469T>A	NCBI36
NG_011618.3:g.211306A>T , LRG_391:g.211306A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.37079A>T	ENSP00000343764.6:p.Asp12360Val
ENST00000342175.11:c.18164A>T	ENSP00000340554.6:p.Asp6055Val
ENST00000359218.10:c.17963A>T	ENSP00000352154.5:p.Asp5988Val
ENST00000342175.10:c.18164A>T	ENSP00000340554.6:p.Asp6055Val
ENST00000342992.10:c.37079A>T	ENSP00000343764.6:p.Asp12360Val
ENST00000359218.9:c.17963A>T	ENSP00000352154.5:p.Asp5988Val
ENST00000460472.6:c.17588A>T	ENSP00000434586.1:p.Asp5863Val
ENST00000589042.5:c.44783A>T MANE Select	ENSP00000467141.1:p.Asp14928Val
ENST00000591111.5:c.39860A>T	ENSP00000465570.1:p.Asp13287Val
ENST00000615779.4:c.39860A>T	ENSP00000483597.1:p.Asp13287Val
NM_001256850.1:c.39860A>T	NP_001243779.1:p.Asp13287Val
NM_001267550.2:c.44783A>T MANE Select	NP_001254479.2:p.Asp14928Val
NM_003319.4:c.17588A>T	NP_003310.4:p.Asp5863Val
NM_133378.4:c.37079A>T	NP_596869.4:p.Asp12360Val
NM_133432.3:c.17963A>T	NP_597676.3:p.Asp5988Val
NM_133437.4:c.18164A>T	NP_597681.4:p.Asp6055Val
XM_011511729.1:c.43880A>T	XP_011510031.1:p.Asp14627Val
XM_011511730.1:c.17774A>T	XP_011510032.1:p.Asp5925Val
XM_011511731.1:c.17633A>T	XP_011510033.1:p.Asp5878Val
XM_017004819.1:c.43676A>T	XP_016860308.1:p.Asp14559Val
XM_017004820.1:c.39074A>T	XP_016860309.1:p.Asp13025Val
XM_017004821.1:c.39071A>T	XP_016860310.1:p.Asp13024Val
XM_017004822.1:c.36113A>T	XP_016860311.1:p.Asp12038Val
XM_017004823.1:c.17729A>T	XP_016860312.1:p.Asp5910Val
XM_024453094.1:c.39224A>T	XP_024308862.1:p.Asp13075Val
XM_024453095.1:c.39221A>T	XP_024308863.1:p.Asp13074Val
XM_024453096.1:c.38654A>T	XP_024308864.1:p.Asp12885Val
XM_024453097.1:c.35996A>T	XP_024308865.1:p.Asp11999Val
XM_024453098.1:c.35915A>T	XP_024308866.1:p.Asp11972Val
XM_024453099.1:c.17678A>T	XP_024308867.1:p.Asp5893Val
XM_024453100.1:c.7532A>T	XP_024308868.1:p.Asp2511Val