Canonical Allele Identifier: CA237827

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 191902
• ClinVar RCV Id: RCV000172263 ; RCV003765081
• dbSNP Id: rs786205320
• MyVariant Identifiers: chr2:g.179438679T>C (hg19) ; chr2:g.178573952T>C (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573952T>C , CM000664.2:g.178573952T>C	GRCh38
NC_000002.11:g.179438679T>C , CM000664.1:g.179438679T>C	GRCh37
NC_000002.10:g.179146925T>C	NCBI36
NG_011618.3:g.261851A>G , LRG_391:g.261851A>G
NG_051363.1:g.56126T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.64476A>G (TTN)	ENSP00000343764.6:p.Thr21492=
ENST00000342175.11:c.45561A>G (TTN)	ENSP00000340554.6:p.Thr15187=
ENST00000359218.10:c.45360A>G (TTN)	ENSP00000352154.5:p.Thr15120=
ENST00000342175.10:c.45561A>G (TTN)	ENSP00000340554.6:p.Thr15187=
ENST00000342992.10:c.64476A>G (TTN)	ENSP00000343764.6:p.Thr21492=
ENST00000359218.9:c.45360A>G (TTN)	ENSP00000352154.5:p.Thr15120=
ENST00000460472.6:c.44985A>G (TTN)	ENSP00000434586.1:p.Thr14995=
ENST00000589042.5:c.72180A>G (TTN) MANE Select	ENSP00000467141.1:p.Thr24060=
ENST00000591111.5:c.67257A>G (TTN)	ENSP00000465570.1:p.Thr22419=
ENST00000615779.4:c.67257A>G (TTN)	ENSP00000483597.1:p.Thr22419=
NM_001256850.1:c.67257A>G (TTN)	NP_001243779.1:p.Thr22419=
NM_001267550.2:c.72180A>G (TTN) MANE Select	NP_001254479.2:p.Thr24060=
NM_003319.4:c.44985A>G (TTN)	NP_003310.4:p.Thr14995=
NM_133378.4:c.64476A>G (TTN)	NP_596869.4:p.Thr21492=
NM_133432.3:c.45360A>G (TTN)	NP_597676.3:p.Thr15120=
NM_133437.4:c.45561A>G (TTN)	NP_597681.4:p.Thr15187=
NR_038271.1:n.596+2503T>C (TTN-AS1)
NR_038272.1:n.2044-8620T>C (TTN-AS1)
XM_011511729.1:c.71277A>G (TTN)	XP_011510031.1:p.Thr23759=
XM_011511730.1:c.45171A>G (TTN)	XP_011510032.1:p.Thr15057=
XM_011511731.1:c.45030A>G (TTN)	XP_011510033.1:p.Thr15010=
XM_017004819.1:c.71073A>G (TTN)	XP_016860308.1:p.Thr23691=
XM_017004820.1:c.66471A>G (TTN)	XP_016860309.1:p.Thr22157=
XM_017004821.1:c.66468A>G (TTN)	XP_016860310.1:p.Thr22156=
XM_017004822.1:c.63510A>G (TTN)	XP_016860311.1:p.Thr21170=
XM_017004823.1:c.45126A>G (TTN)	XP_016860312.1:p.Thr15042=
XM_024453094.1:c.66621A>G (TTN)	XP_024308862.1:p.Thr22207=
XM_024453095.1:c.66618A>G (TTN)	XP_024308863.1:p.Thr22206=
XM_024453096.1:c.66051A>G (TTN)	XP_024308864.1:p.Thr22017=
XM_024453097.1:c.63393A>G (TTN)	XP_024308865.1:p.Thr21131=
XM_024453098.1:c.63312A>G (TTN)	XP_024308866.1:p.Thr21104=
XM_024453099.1:c.45075A>G (TTN)	XP_024308867.1:p.Thr15025=
XM_024453100.1:c.34929A>G (TTN)	XP_024308868.1:p.Thr11643=