Canonical Allele Identifier: CA179001

Gene: TTN

Linked Data

• ClinVar Variation Id: 166227
• ClinVar RCV Id: RCV000152410 ; RCV000560224 ; RCV000725300 ; RCV002381481 ; RCV003486683
• dbSNP Id: rs727503652
• ExAC: 2:179602878 C / T
• gnomAD v2: 2-179602878-C-T
• gnomAD v3: 2-178738151-C-T
• gnomAD v4: 2-178738151-C-T
• MyVariant Identifiers: chr2:g.179602878C>T (hg19) ; chr2:g.178738151C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178738151C>T , CM000664.2:g.178738151C>T	GRCh38
NC_000002.11:g.179602878C>T , CM000664.1:g.179602878C>T	GRCh37
NC_000002.10:g.179311123C>T	NCBI36
NG_011618.3:g.97652G>A , LRG_391:g.97652G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.10570G>A	ENSP00000343764.6:p.Gly3524Ser
ENST00000342175.11:c.13789G>A	ENSP00000340554.6:p.Gly4597Ser
ENST00000359218.10:c.13588G>A	ENSP00000352154.5:p.Gly4530Ser
ENST00000342175.10:c.13789G>A	ENSP00000340554.6:p.Gly4597Ser
ENST00000342992.10:c.10570G>A	ENSP00000343764.6:p.Gly3524Ser
ENST00000359218.9:c.13588G>A	ENSP00000352154.5:p.Gly4530Ser
ENST00000460472.6:c.13213G>A	ENSP00000434586.1:p.Gly4405Ser
ENST00000589042.5:c.14302G>A MANE Select	ENSP00000467141.1:p.Gly4768Ser
ENST00000591111.5:c.13351G>A	ENSP00000465570.1:p.Gly4451Ser
ENST00000615779.4:c.13351G>A	ENSP00000483597.1:p.Gly4451Ser
NM_001256850.1:c.13351G>A	NP_001243779.1:p.Gly4451Ser
NM_001267550.2:c.14302G>A MANE Select	NP_001254479.2:p.Gly4768Ser
NM_003319.4:c.13213G>A	NP_003310.4:p.Gly4405Ser
NM_133378.4:c.10570G>A	NP_596869.4:p.Gly3524Ser
NM_133432.3:c.13588G>A	NP_597676.3:p.Gly4530Ser
NM_133437.4:c.13789G>A	NP_597681.4:p.Gly4597Ser
XM_011511729.1:c.13399G>A	XP_011510031.1:p.Gly4467Ser
XM_011511730.1:c.13399G>A	XP_011510032.1:p.Gly4467Ser
XM_011511731.1:c.13258G>A	XP_011510033.1:p.Gly4420Ser
XM_017004819.1:c.13354G>A	XP_016860308.1:p.Gly4452Ser
XM_017004820.1:c.10573G>A	XP_016860309.1:p.Gly3525Ser
XM_017004821.1:c.10570G>A	XP_016860310.1:p.Gly3524Ser
XM_017004822.1:c.13354G>A	XP_016860311.1:p.Gly4452Ser
XM_017004823.1:c.13354G>A	XP_016860312.1:p.Gly4452Ser
XM_024453094.1:c.13354G>A	XP_024308862.1:p.Gly4452Ser
XM_024453095.1:c.13354G>A	XP_024308863.1:p.Gly4452Ser
XM_024453096.1:c.13354G>A	XP_024308864.1:p.Gly4452Ser
XM_024453097.1:c.13354G>A	XP_024308865.1:p.Gly4452Ser
XM_024453098.1:c.13354G>A	XP_024308866.1:p.Gly4452Ser
XM_024453099.1:c.13354G>A	XP_024308867.1:p.Gly4452Ser