Canonical Allele Identifier: CA352129

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 222869
• ClinVar RCV Id: RCV000208534
• dbSNP Id: rs869025550
• MyVariant Identifiers: chr2:g.179444122T>C (hg19) ; chr2:g.178579395T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579395T>C , CM000664.2:g.178579395T>C	GRCh38
NC_000002.11:g.179444122T>C , CM000664.1:g.179444122T>C	GRCh37
NC_000002.10:g.179152368T>C	NCBI36
NG_011618.3:g.256408A>G , LRG_391:g.256408A>G
NG_051363.1:g.61569T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.59933-2A>G (TTN)	ENSP00000343764.6:n.59933-2A>G
ENST00000342175.11:c.41018-2A>G (TTN)	ENSP00000340554.6:n.41018-2A>G
ENST00000359218.10:c.40817-2A>G (TTN)	ENSP00000352154.5:n.40817-2A>G
ENST00000342175.10:c.41018-2A>G (TTN)	ENSP00000340554.6:n.41018-2A>G
ENST00000342992.10:c.59933-2A>G (TTN)	ENSP00000343764.6:n.59933-2A>G
ENST00000359218.9:c.40817-2A>G (TTN)	ENSP00000352154.5:n.40817-2A>G
ENST00000460472.6:c.40442-2A>G (TTN)	ENSP00000434586.1:n.40442-2A>G
ENST00000589042.5:c.67637-2A>G (TTN) MANE Select	ENSP00000467141.1:n.67637-2A>G
ENST00000591111.5:c.62714-2A>G (TTN)	ENSP00000465570.1:n.62714-2A>G
ENST00000615779.4:c.62714-2A>G (TTN)	ENSP00000483597.1:n.62714-2A>G
NM_001256850.1:c.62714-2A>G (TTN)	NP_001243779.1:n.62714-2A>G
NM_001267550.2:c.67637-2A>G (TTN) MANE Select	NP_001254479.2:n.67637-2A>G
NM_003319.4:c.40442-2A>G (TTN)	NP_003310.4:n.40442-2A>G
NM_133378.4:c.59933-2A>G (TTN)	NP_596869.4:n.59933-2A>G
NM_133432.3:c.40817-2A>G (TTN)	NP_597676.3:n.40817-2A>G
NM_133437.4:c.41018-2A>G (TTN)	NP_597681.4:n.41018-2A>G
NR_038271.1:n.596+7946T>C (TTN-AS1)
NR_038272.1:n.2044-3177T>C (TTN-AS1)
XM_011511729.1:c.66734-2A>G (TTN)	XP_011510031.1:n.66734-2A>G
XM_011511730.1:c.40628-2A>G (TTN)	XP_011510032.1:n.40628-2A>G
XM_011511731.1:c.40487-2A>G (TTN)	XP_011510033.1:n.40487-2A>G
XM_017004819.1:c.66530-2A>G (TTN)	XP_016860308.1:n.66530-2A>G
XM_017004820.1:c.61928-2A>G (TTN)	XP_016860309.1:n.61928-2A>G
XM_017004821.1:c.61925-2A>G (TTN)	XP_016860310.1:n.61925-2A>G
XM_017004822.1:c.58967-2A>G (TTN)	XP_016860311.1:n.58967-2A>G
XM_017004823.1:c.40583-2A>G (TTN)	XP_016860312.1:n.40583-2A>G
XM_024453094.1:c.62078-2A>G (TTN)	XP_024308862.1:n.62078-2A>G
XM_024453095.1:c.62075-2A>G (TTN)	XP_024308863.1:n.62075-2A>G
XM_024453096.1:c.61508-2A>G (TTN)	XP_024308864.1:n.61508-2A>G
XM_024453097.1:c.58850-2A>G (TTN)	XP_024308865.1:n.58850-2A>G
XM_024453098.1:c.58769-2A>G (TTN)	XP_024308866.1:n.58769-2A>G
XM_024453099.1:c.40532-2A>G (TTN)	XP_024308867.1:n.40532-2A>G
XM_024453100.1:c.30386-2A>G (TTN)	XP_024308868.1:n.30386-2A>G