Canonical Allele Identifier: CA10604538

Gene: TTN

Linked Data

• ClinVar Variation Id: 283629
• ClinVar RCV Id: RCV000309362 ; RCV001457824
• dbSNP Id: rs886042667
• MyVariant Identifiers: chr2:g.179489217C>T (hg19) ; chr2:g.178624490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178624490C>T , CM000664.2:g.178624490C>T	GRCh38
NC_000002.11:g.179489217C>T , CM000664.1:g.179489217C>T	GRCh37
NC_000002.10:g.179197462C>T	NCBI36
NG_011618.3:g.211313G>A , LRG_391:g.211313G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.37086G>A	ENSP00000343764.6:p.Lys12362=
ENST00000342175.11:c.18171G>A	ENSP00000340554.6:p.Lys6057=
ENST00000359218.10:c.17970G>A	ENSP00000352154.5:p.Lys5990=
ENST00000342175.10:c.18171G>A	ENSP00000340554.6:p.Lys6057=
ENST00000342992.10:c.37086G>A	ENSP00000343764.6:p.Lys12362=
ENST00000359218.9:c.17970G>A	ENSP00000352154.5:p.Lys5990=
ENST00000460472.6:c.17595G>A	ENSP00000434586.1:p.Lys5865=
ENST00000589042.5:c.44790G>A MANE Select	ENSP00000467141.1:p.Lys14930=
ENST00000591111.5:c.39867G>A	ENSP00000465570.1:p.Lys13289=
ENST00000615779.4:c.39867G>A	ENSP00000483597.1:p.Lys13289=
NM_001256850.1:c.39867G>A	NP_001243779.1:p.Lys13289=
NM_001267550.2:c.44790G>A MANE Select	NP_001254479.2:p.Lys14930=
NM_003319.4:c.17595G>A	NP_003310.4:p.Lys5865=
NM_133378.4:c.37086G>A	NP_596869.4:p.Lys12362=
NM_133432.3:c.17970G>A	NP_597676.3:p.Lys5990=
NM_133437.4:c.18171G>A	NP_597681.4:p.Lys6057=
XM_011511729.1:c.43887G>A	XP_011510031.1:p.Lys14629=
XM_011511730.1:c.17781G>A	XP_011510032.1:p.Lys5927=
XM_011511731.1:c.17640G>A	XP_011510033.1:p.Lys5880=
XM_017004819.1:c.43683G>A	XP_016860308.1:p.Lys14561=
XM_017004820.1:c.39081G>A	XP_016860309.1:p.Lys13027=
XM_017004821.1:c.39078G>A	XP_016860310.1:p.Lys13026=
XM_017004822.1:c.36120G>A	XP_016860311.1:p.Lys12040=
XM_017004823.1:c.17736G>A	XP_016860312.1:p.Lys5912=
XM_024453094.1:c.39231G>A	XP_024308862.1:p.Lys13077=
XM_024453095.1:c.39228G>A	XP_024308863.1:p.Lys13076=
XM_024453096.1:c.38661G>A	XP_024308864.1:p.Lys12887=
XM_024453097.1:c.36003G>A	XP_024308865.1:p.Lys12001=
XM_024453098.1:c.35922G>A	XP_024308866.1:p.Lys11974=
XM_024453099.1:c.17685G>A	XP_024308867.1:p.Lys5895=
XM_024453100.1:c.7539G>A	XP_024308868.1:p.Lys2513=