Canonical Allele Identifier: CA16610398

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 404709
• ClinVar RCV Id: RCV000786238 ; RCV001376736
• dbSNP Id: rs1060500419
• MyVariant Identifiers: chr2:g.179482914A>G (hg19) ; chr2:g.178618187A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618187A>G , CM000664.2:g.178618187A>G	GRCh38
NC_000002.11:g.179482914A>G , CM000664.1:g.179482914A>G	GRCh37
NC_000002.10:g.179191159A>G	NCBI36
NG_011618.3:g.217616T>C , LRG_391:g.217616T>C
NG_051363.1:g.100361A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39565+2T>C (TTN)	ENSP00000343764.6:n.39565+2T>C
ENST00000342175.11:c.20650+2T>C (TTN)	ENSP00000340554.6:n.20650+2T>C
ENST00000359218.10:c.20449+2T>C (TTN)	ENSP00000352154.5:n.20449+2T>C
ENST00000342175.10:c.20650+2T>C (TTN)	ENSP00000340554.6:n.20650+2T>C
ENST00000342992.10:c.39565+2T>C (TTN)	ENSP00000343764.6:n.39565+2T>C
ENST00000359218.9:c.20449+2T>C (TTN)	ENSP00000352154.5:n.20449+2T>C
ENST00000460472.6:c.20074+2T>C (TTN)	ENSP00000434586.1:n.20074+2T>C
ENST00000589042.5:c.47269+2T>C (TTN) MANE Select	ENSP00000467141.1:n.47269+2T>C
ENST00000591111.5:c.42346+2T>C (TTN)	ENSP00000465570.1:n.42346+2T>C
ENST00000615779.4:c.42346+2T>C (TTN)	ENSP00000483597.1:n.42346+2T>C
NM_001256850.1:c.42346+2T>C (TTN)	NP_001243779.1:n.42346+2T>C
NM_001267550.2:c.47269+2T>C (TTN) MANE Select	NP_001254479.2:n.47269+2T>C
NM_003319.4:c.20074+2T>C (TTN)	NP_003310.4:n.20074+2T>C
NM_133378.4:c.39565+2T>C (TTN)	NP_596869.4:n.39565+2T>C
NM_133432.3:c.20449+2T>C (TTN)	NP_597676.3:n.20449+2T>C
NM_133437.4:c.20650+2T>C (TTN)	NP_597681.4:n.20650+2T>C
NR_038271.1:n.1605-1566A>G (TTN-AS1)
XM_011511729.1:c.46366+2T>C (TTN)	XP_011510031.1:n.46366+2T>C
XM_011511730.1:c.20260+2T>C (TTN)	XP_011510032.1:n.20260+2T>C
XM_011511731.1:c.20119+2T>C (TTN)	XP_011510033.1:n.20119+2T>C
XM_017004819.1:c.46162+2T>C (TTN)	XP_016860308.1:n.46162+2T>C
XM_017004820.1:c.41560+2T>C (TTN)	XP_016860309.1:n.41560+2T>C
XM_017004821.1:c.41557+2T>C (TTN)	XP_016860310.1:n.41557+2T>C
XM_017004822.1:c.38599+2T>C (TTN)	XP_016860311.1:n.38599+2T>C
XM_017004823.1:c.20215+2T>C (TTN)	XP_016860312.1:n.20215+2T>C
XM_024453094.1:c.41710+2T>C (TTN)	XP_024308862.1:n.41710+2T>C
XM_024453095.1:c.41707+2T>C (TTN)	XP_024308863.1:n.41707+2T>C
XM_024453096.1:c.41140+2T>C (TTN)	XP_024308864.1:n.41140+2T>C
XM_024453097.1:c.38482+2T>C (TTN)	XP_024308865.1:n.38482+2T>C
XM_024453098.1:c.38401+2T>C (TTN)	XP_024308866.1:n.38401+2T>C
XM_024453099.1:c.20164+2T>C (TTN)	XP_024308867.1:n.20164+2T>C
XM_024453100.1:c.10018+2T>C (TTN)	XP_024308868.1:n.10018+2T>C