Canonical Allele Identifier: CA246894

Gene: TTN

Linked Data

• ClinVar Variation Id: 198313
• ClinVar RCV Id: RCV000179594 ; RCV000764350
• dbSNP Id: rs794727818
• gnomAD v4: 2-178729483-T-C
• MyVariant Identifiers: chr2:g.179594210T>C (hg19) ; chr2:g.178729483T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178729483T>C , CM000664.2:g.178729483T>C	GRCh38
NC_000002.11:g.179594210T>C , CM000664.1:g.179594210T>C	GRCh37
NC_000002.10:g.179302455T>C	NCBI36
NG_011618.3:g.106320A>G , LRG_391:g.106320A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.14941A>G	ENSP00000343764.6:p.Thr4981Ala
ENST00000342175.11:c.13858+8599A>G	ENSP00000340554.6:n.13858+8599A>G
ENST00000359218.10:c.13657+8599A>G	ENSP00000352154.5:n.13657+8599A>G
ENST00000342175.10:c.13858+8599A>G	ENSP00000340554.6:n.13858+8599A>G
ENST00000342992.10:c.14941A>G	ENSP00000343764.6:p.Thr4981Ala
ENST00000359218.9:c.13657+8599A>G	ENSP00000352154.5:n.13657+8599A>G
ENST00000460472.6:c.13282+8599A>G	ENSP00000434586.1:n.13282+8599A>G
ENST00000589042.5:c.18673A>G MANE Select	ENSP00000467141.1:p.Thr6225Ala
ENST00000591111.5:c.17722A>G	ENSP00000465570.1:p.Thr5908Ala
ENST00000615779.4:c.17722A>G	ENSP00000483597.1:p.Thr5908Ala
NM_001256850.1:c.17722A>G	NP_001243779.1:p.Thr5908Ala
NM_001267550.2:c.18673A>G MANE Select	NP_001254479.2:p.Thr6225Ala
NM_003319.4:c.13282+8599A>G	NP_003310.4:n.13282+8599A>G
NM_133378.4:c.14941A>G	NP_596869.4:p.Thr4981Ala
NM_133432.3:c.13657+8599A>G	NP_597676.3:n.13657+8599A>G
NM_133437.4:c.13858+8599A>G	NP_597681.4:n.13858+8599A>G
XM_011511729.1:c.17770A>G	XP_011510031.1:p.Thr5924Ala
XM_011511730.1:c.13468+8599A>G	XP_011510032.1:n.13468+8599A>G
XM_011511731.1:c.13327+8599A>G	XP_011510033.1:n.13327+8599A>G
XM_017004819.1:c.17725A>G	XP_016860308.1:p.Thr5909Ala
XM_017004820.1:c.14944A>G	XP_016860309.1:p.Thr4982Ala
XM_017004821.1:c.14941A>G	XP_016860310.1:p.Thr4981Ala
XM_017004822.1:c.17725A>G	XP_016860311.1:p.Thr5909Ala
XM_017004823.1:c.13423+8599A>G	XP_016860312.1:n.13423+8599A>G
XM_024453094.1:c.17725A>G	XP_024308862.1:p.Thr5909Ala
XM_024453095.1:c.17725A>G	XP_024308863.1:p.Thr5909Ala
XM_024453096.1:c.17725A>G	XP_024308864.1:p.Thr5909Ala
XM_024453097.1:c.17725A>G	XP_024308865.1:p.Thr5909Ala
XM_024453098.1:c.17725A>G	XP_024308866.1:p.Thr5909Ala
XM_024453099.1:c.13423+8599A>G	XP_024308867.1:n.13423+8599A>G