Canonical Allele Identifier: CA658657159

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 448801
• ClinVar RCV Id: RCV000517923 ; RCV003766937
• dbSNP Id: rs1553697218
• MyVariant Identifiers: chr2:g.179476686T>C (hg19) ; chr2:g.178611959T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178611959T>C , CM000664.2:g.178611959T>C	GRCh38
NC_000002.11:g.179476686T>C , CM000664.1:g.179476686T>C	GRCh37
NC_000002.10:g.179184931T>C	NCBI36
NG_011618.3:g.223844A>G , LRG_391:g.223844A>G
NG_051363.1:g.94133T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.42651-5A>G (TTN)	ENSP00000343764.6:n.42651-5A>G
ENST00000342175.11:c.23736-5A>G (TTN)	ENSP00000340554.6:n.23736-5A>G
ENST00000359218.10:c.23535-5A>G (TTN)	ENSP00000352154.5:n.23535-5A>G
ENST00000342175.10:c.23736-5A>G (TTN)	ENSP00000340554.6:n.23736-5A>G
ENST00000342992.10:c.42651-5A>G (TTN)	ENSP00000343764.6:n.42651-5A>G
ENST00000359218.9:c.23535-5A>G (TTN)	ENSP00000352154.5:n.23535-5A>G
ENST00000460472.6:c.23160-5A>G (TTN)	ENSP00000434586.1:n.23160-5A>G
ENST00000589042.5:c.50355-5A>G (TTN) MANE Select	ENSP00000467141.1:n.50355-5A>G
ENST00000591111.5:c.45432-5A>G (TTN)	ENSP00000465570.1:n.45432-5A>G
ENST00000615779.4:c.45432-5A>G (TTN)	ENSP00000483597.1:n.45432-5A>G
NM_001256850.1:c.45432-5A>G (TTN)	NP_001243779.1:n.45432-5A>G
NM_001267550.2:c.50355-5A>G (TTN) MANE Select	NP_001254479.2:n.50355-5A>G
NM_003319.4:c.23160-5A>G (TTN)	NP_003310.4:n.23160-5A>G
NM_133378.4:c.42651-5A>G (TTN)	NP_596869.4:n.42651-5A>G
NM_133432.3:c.23535-5A>G (TTN)	NP_597676.3:n.23535-5A>G
NM_133437.4:c.23736-5A>G (TTN)	NP_597681.4:n.23736-5A>G
NR_038271.1:n.783-2076T>C (TTN-AS1)
XM_011511729.1:c.49452-5A>G (TTN)	XP_011510031.1:n.49452-5A>G
XM_011511730.1:c.23346-5A>G (TTN)	XP_011510032.1:n.23346-5A>G
XM_011511731.1:c.23205-5A>G (TTN)	XP_011510033.1:n.23205-5A>G
XM_017004819.1:c.49248-5A>G (TTN)	XP_016860308.1:n.49248-5A>G
XM_017004820.1:c.44646-5A>G (TTN)	XP_016860309.1:n.44646-5A>G
XM_017004821.1:c.44643-5A>G (TTN)	XP_016860310.1:n.44643-5A>G
XM_017004822.1:c.41685-5A>G (TTN)	XP_016860311.1:n.41685-5A>G
XM_017004823.1:c.23301-5A>G (TTN)	XP_016860312.1:n.23301-5A>G
XM_024453094.1:c.44796-5A>G (TTN)	XP_024308862.1:n.44796-5A>G
XM_024453095.1:c.44793-5A>G (TTN)	XP_024308863.1:n.44793-5A>G
XM_024453096.1:c.44226-5A>G (TTN)	XP_024308864.1:n.44226-5A>G
XM_024453097.1:c.41568-5A>G (TTN)	XP_024308865.1:n.41568-5A>G
XM_024453098.1:c.41487-5A>G (TTN)	XP_024308866.1:n.41487-5A>G
XM_024453099.1:c.23250-5A>G (TTN)	XP_024308867.1:n.23250-5A>G
XM_024453100.1:c.13104-5A>G (TTN)	XP_024308868.1:n.13104-5A>G