Canonical Allele Identifier: CA2002147

Gene: TTN

Linked Data

• ClinVar Variation Id: 2437926
• ClinVar RCV Id: RCV003137092
• dbSNP Id: rs746406893
• ExAC: 2:179598206 C / T
• gnomAD v2: 2-179598206-C-T
• gnomAD v3: 2-178733479-C-T
• gnomAD v4: 2-178733479-C-T
• MyVariant Identifiers: chr2:g.179598206C>T (hg19) ; chr2:g.178733479C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178733479C>T , CM000664.2:g.178733479C>T	GRCh38
NC_000002.11:g.179598206C>T , CM000664.1:g.179598206C>T	GRCh37
NC_000002.10:g.179306451C>T	NCBI36
NG_011618.3:g.102324G>A , LRG_391:g.102324G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.12082G>A	ENSP00000343764.6:p.Val4028Met
ENST00000342175.11:c.13858+4603G>A	ENSP00000340554.6:n.13858+4603G>A
ENST00000359218.10:c.13657+4603G>A	ENSP00000352154.5:n.13657+4603G>A
ENST00000342175.10:c.13858+4603G>A	ENSP00000340554.6:n.13858+4603G>A
ENST00000342992.10:c.12082G>A	ENSP00000343764.6:p.Val4028Met
ENST00000359218.9:c.13657+4603G>A	ENSP00000352154.5:n.13657+4603G>A
ENST00000460472.6:c.13282+4603G>A	ENSP00000434586.1:n.13282+4603G>A
ENST00000589042.5:c.15814G>A MANE Select	ENSP00000467141.1:p.Val5272Met
ENST00000591111.5:c.14863G>A	ENSP00000465570.1:p.Val4955Met
ENST00000615779.4:c.14863G>A	ENSP00000483597.1:p.Val4955Met
NM_001256850.1:c.14863G>A	NP_001243779.1:p.Val4955Met
NM_001267550.2:c.15814G>A MANE Select	NP_001254479.2:p.Val5272Met
NM_003319.4:c.13282+4603G>A	NP_003310.4:n.13282+4603G>A
NM_133378.4:c.12082G>A	NP_596869.4:p.Val4028Met
NM_133432.3:c.13657+4603G>A	NP_597676.3:n.13657+4603G>A
NM_133437.4:c.13858+4603G>A	NP_597681.4:n.13858+4603G>A
XM_011511729.1:c.14911G>A	XP_011510031.1:p.Val4971Met
XM_011511730.1:c.13468+4603G>A	XP_011510032.1:n.13468+4603G>A
XM_011511731.1:c.13327+4603G>A	XP_011510033.1:n.13327+4603G>A
XM_017004819.1:c.14866G>A	XP_016860308.1:p.Val4956Met
XM_017004820.1:c.12085G>A	XP_016860309.1:p.Val4029Met
XM_017004821.1:c.12082G>A	XP_016860310.1:p.Val4028Met
XM_017004822.1:c.14866G>A	XP_016860311.1:p.Val4956Met
XM_017004823.1:c.13423+4603G>A	XP_016860312.1:n.13423+4603G>A
XM_024453094.1:c.14866G>A	XP_024308862.1:p.Val4956Met
XM_024453095.1:c.14866G>A	XP_024308863.1:p.Val4956Met
XM_024453096.1:c.14866G>A	XP_024308864.1:p.Val4956Met
XM_024453097.1:c.14866G>A	XP_024308865.1:p.Val4956Met
XM_024453098.1:c.14866G>A	XP_024308866.1:p.Val4956Met
XM_024453099.1:c.13423+4603G>A	XP_024308867.1:n.13423+4603G>A