Canonical Allele Identifier: CA349411918

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 945244
• ClinVar RCV Id: RCV001215836
• dbSNP Id: rs1689457386
• MyVariant Identifiers: chr2:g.179396985T>C (hg19) ; chr2:g.178532258T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532258T>C , CM000664.2:g.178532258T>C	GRCh38
NC_000002.11:g.179396985T>C , CM000664.1:g.179396985T>C	GRCh37
NC_000002.10:g.179105231T>C	NCBI36
NG_011618.3:g.303545A>G , LRG_391:g.303545A>G
NG_051363.1:g.14432T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96653A>G (TTN)	ENSP00000343764.6:p.Tyr32218Cys
ENST00000342175.11:c.77738A>G (TTN)	ENSP00000340554.6:p.Tyr25913Cys
ENST00000359218.10:c.77537A>G (TTN)	ENSP00000352154.5:p.Tyr25846Cys
ENST00000342175.10:c.77738A>G (TTN)	ENSP00000340554.6:p.Tyr25913Cys
ENST00000342992.10:c.96653A>G (TTN)	ENSP00000343764.6:p.Tyr32218Cys
ENST00000359218.9:c.77537A>G (TTN)	ENSP00000352154.5:p.Tyr25846Cys
ENST00000460472.6:c.77162A>G (TTN)	ENSP00000434586.1:p.Tyr25721Cys
ENST00000589042.5:c.104357A>G (TTN) MANE Select	ENSP00000467141.1:p.Tyr34786Cys
ENST00000591111.5:c.99434A>G (TTN)	ENSP00000465570.1:p.Tyr33145Cys
ENST00000615779.4:c.99434A>G (TTN)	ENSP00000483597.1:p.Tyr33145Cys
NM_001256850.1:c.99434A>G (TTN)	NP_001243779.1:p.Tyr33145Cys
NM_001267550.2:c.104357A>G (TTN) MANE Select	NP_001254479.2:p.Tyr34786Cys
NM_003319.4:c.77162A>G (TTN)	NP_003310.4:p.Tyr25721Cys
NM_133378.4:c.96653A>G (TTN)	NP_596869.4:p.Tyr32218Cys
NM_133432.3:c.77537A>G (TTN)	NP_597676.3:p.Tyr25846Cys
NM_133437.4:c.77738A>G (TTN)	NP_597681.4:p.Tyr25913Cys
NR_038271.1:n.446+8622T>C (TTN-AS1)
NR_038272.1:n.220-3474T>C (TTN-AS1)
XM_011511729.1:c.103454A>G (TTN)	XP_011510031.1:p.Tyr34485Cys
XM_011511730.1:c.77348A>G (TTN)	XP_011510032.1:p.Tyr25783Cys
XM_011511731.1:c.77207A>G (TTN)	XP_011510033.1:p.Tyr25736Cys
XM_017004819.1:c.103250A>G (TTN)	XP_016860308.1:p.Tyr34417Cys
XM_017004820.1:c.98648A>G (TTN)	XP_016860309.1:p.Tyr32883Cys
XM_017004821.1:c.98645A>G (TTN)	XP_016860310.1:p.Tyr32882Cys
XM_017004822.1:c.95687A>G (TTN)	XP_016860311.1:p.Tyr31896Cys
XM_017004823.1:c.77303A>G (TTN)	XP_016860312.1:p.Tyr25768Cys
XM_024453094.1:c.98798A>G (TTN)	XP_024308862.1:p.Tyr32933Cys
XM_024453095.1:c.98795A>G (TTN)	XP_024308863.1:p.Tyr32932Cys
XM_024453096.1:c.98228A>G (TTN)	XP_024308864.1:p.Tyr32743Cys
XM_024453097.1:c.95570A>G (TTN)	XP_024308865.1:p.Tyr31857Cys
XM_024453098.1:c.95489A>G (TTN)	XP_024308866.1:p.Tyr31830Cys
XM_024453099.1:c.77252A>G (TTN)	XP_024308867.1:p.Tyr25751Cys
XM_024453100.1:c.67106A>G (TTN)	XP_024308868.1:p.Tyr22369Cys