Canonical Allele Identifier: CA311880

Gene: TTN

Linked Data

• ClinVar Variation Id: 203272
• ClinVar RCV Id: RCV003317137
• dbSNP Id: rs72648947
• ExAC: 2:179594430 C / T
• gnomAD v2: 2-179594430-C-T
• gnomAD v3: 2-178729703-C-T
• gnomAD v4: 2-178729703-C-T
• MyVariant Identifiers: chr2:g.179594430C>T (hg19) ; chr2:g.178729703C>T (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178729703C>T , CM000664.2:g.178729703C>T	GRCh38
NC_000002.11:g.179594430C>T , CM000664.1:g.179594430C>T	GRCh37
NC_000002.10:g.179302675C>T	NCBI36
NG_011618.3:g.106100G>A , LRG_391:g.106100G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.14818G>A	ENSP00000343764.6:p.Ala4940Thr
ENST00000342175.11:c.13858+8379G>A	ENSP00000340554.6:n.13858+8379G>A
ENST00000359218.10:c.13657+8379G>A	ENSP00000352154.5:n.13657+8379G>A
ENST00000342175.10:c.13858+8379G>A	ENSP00000340554.6:n.13858+8379G>A
ENST00000342992.10:c.14818G>A	ENSP00000343764.6:p.Ala4940Thr
ENST00000359218.9:c.13657+8379G>A	ENSP00000352154.5:n.13657+8379G>A
ENST00000460472.6:c.13282+8379G>A	ENSP00000434586.1:n.13282+8379G>A
ENST00000589042.5:c.18550G>A MANE Select	ENSP00000467141.1:p.Ala6184Thr
ENST00000591111.5:c.17599G>A	ENSP00000465570.1:p.Ala5867Thr
ENST00000615779.4:c.17599G>A	ENSP00000483597.1:p.Ala5867Thr
NM_001256850.1:c.17599G>A	NP_001243779.1:p.Ala5867Thr
NM_001267550.2:c.18550G>A MANE Select	NP_001254479.2:p.Ala6184Thr
NM_003319.4:c.13282+8379G>A	NP_003310.4:n.13282+8379G>A
NM_133378.4:c.14818G>A	NP_596869.4:p.Ala4940Thr
NM_133432.3:c.13657+8379G>A	NP_597676.3:n.13657+8379G>A
NM_133437.4:c.13858+8379G>A	NP_597681.4:n.13858+8379G>A
XM_011511729.1:c.17647G>A	XP_011510031.1:p.Ala5883Thr
XM_011511730.1:c.13468+8379G>A	XP_011510032.1:n.13468+8379G>A
XM_011511731.1:c.13327+8379G>A	XP_011510033.1:n.13327+8379G>A
XM_017004819.1:c.17602G>A	XP_016860308.1:p.Ala5868Thr
XM_017004820.1:c.14821G>A	XP_016860309.1:p.Ala4941Thr
XM_017004821.1:c.14818G>A	XP_016860310.1:p.Ala4940Thr
XM_017004822.1:c.17602G>A	XP_016860311.1:p.Ala5868Thr
XM_017004823.1:c.13423+8379G>A	XP_016860312.1:n.13423+8379G>A
XM_024453094.1:c.17602G>A	XP_024308862.1:p.Ala5868Thr
XM_024453095.1:c.17602G>A	XP_024308863.1:p.Ala5868Thr
XM_024453096.1:c.17602G>A	XP_024308864.1:p.Ala5868Thr
XM_024453097.1:c.17602G>A	XP_024308865.1:p.Ala5868Thr
XM_024453098.1:c.17602G>A	XP_024308866.1:p.Ala5868Thr
XM_024453099.1:c.13423+8379G>A	XP_024308867.1:n.13423+8379G>A