Canonical Allele Identifier: CA309345

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202416
• ClinVar RCV Id: RCV000184272 ; RCV000702305 ; RCV002500556 ; RCV002345649
• dbSNP Id: rs779874042
• gnomAD v4: 2-178563493-C-A
• MyVariant Identifiers: chr2:g.179428220C>A (hg19) ; chr2:g.178563493C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178563493C>A , CM000664.2:g.178563493C>A	GRCh38
NC_000002.11:g.179428220C>A , CM000664.1:g.179428220C>A	GRCh37
NC_000002.10:g.179136466C>A	NCBI36
NG_011618.3:g.272310G>T , LRG_391:g.272310G>T
NG_051363.1:g.45667C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.74935G>T (TTN)	ENSP00000343764.6:p.Glu24979Ter
ENST00000342175.11:c.56020G>T (TTN)	ENSP00000340554.6:p.Glu18674Ter
ENST00000359218.10:c.55819G>T (TTN)	ENSP00000352154.5:p.Glu18607Ter
ENST00000342175.10:c.56020G>T (TTN)	ENSP00000340554.6:p.Glu18674Ter
ENST00000342992.10:c.74935G>T (TTN)	ENSP00000343764.6:p.Glu24979Ter
ENST00000359218.9:c.55819G>T (TTN)	ENSP00000352154.5:p.Glu18607Ter
ENST00000460472.6:c.55444G>T (TTN)	ENSP00000434586.1:p.Glu18482Ter
ENST00000589042.5:c.82639G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu27547Ter
ENST00000591111.5:c.77716G>T (TTN)	ENSP00000465570.1:p.Glu25906Ter
ENST00000615779.4:c.77716G>T (TTN)	ENSP00000483597.1:p.Glu25906Ter
NM_001256850.1:c.77716G>T (TTN)	NP_001243779.1:p.Glu25906Ter
NM_001267550.2:c.82639G>T (TTN) MANE Select	NP_001254479.2:p.Glu27547Ter
NM_003319.4:c.55444G>T (TTN)	NP_003310.4:p.Glu18482Ter
NM_133378.4:c.74935G>T (TTN)	NP_596869.4:p.Glu24979Ter
NM_133432.3:c.55819G>T (TTN)	NP_597676.3:p.Glu18607Ter
NM_133437.4:c.56020G>T (TTN)	NP_597681.4:p.Glu18674Ter
NR_038271.1:n.447-7807C>A (TTN-AS1)
NR_038272.1:n.2044-19079C>A (TTN-AS1)
XM_011511729.1:c.81736G>T (TTN)	XP_011510031.1:p.Glu27246Ter
XM_011511730.1:c.55630G>T (TTN)	XP_011510032.1:p.Glu18544Ter
XM_011511731.1:c.55489G>T (TTN)	XP_011510033.1:p.Glu18497Ter
XM_017004819.1:c.81532G>T (TTN)	XP_016860308.1:p.Glu27178Ter
XM_017004820.1:c.76930G>T (TTN)	XP_016860309.1:p.Glu25644Ter
XM_017004821.1:c.76927G>T (TTN)	XP_016860310.1:p.Glu25643Ter
XM_017004822.1:c.73969G>T (TTN)	XP_016860311.1:p.Glu24657Ter
XM_017004823.1:c.55585G>T (TTN)	XP_016860312.1:p.Glu18529Ter
XM_024453094.1:c.77080G>T (TTN)	XP_024308862.1:p.Glu25694Ter
XM_024453095.1:c.77077G>T (TTN)	XP_024308863.1:p.Glu25693Ter
XM_024453096.1:c.76510G>T (TTN)	XP_024308864.1:p.Glu25504Ter
XM_024453097.1:c.73852G>T (TTN)	XP_024308865.1:p.Glu24618Ter
XM_024453098.1:c.73771G>T (TTN)	XP_024308866.1:p.Glu24591Ter
XM_024453099.1:c.55534G>T (TTN)	XP_024308867.1:p.Glu18512Ter
XM_024453100.1:c.45388G>T (TTN)	XP_024308868.1:p.Glu15130Ter