Canonical Allele Identifier: CA349406757

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1906541
• ClinVar RCV Id: RCV002586988
• dbSNP Id: rs1421820389
• COSMIC: COSM4737382 ; COSM4737383 ; COSM4737384 ; COSM4737385
• MyVariant Identifiers: chr2:g.179395163C>G (hg19) ; chr2:g.178530436C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530436C>G , CM000664.2:g.178530436C>G	GRCh38
NC_000002.11:g.179395163C>G , CM000664.1:g.179395163C>G	GRCh37
NC_000002.10:g.179103409C>G	NCBI36
NG_011618.3:g.305367G>C , LRG_391:g.305367G>C
NG_051363.1:g.12610C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98475G>C (TTN)	ENSP00000343764.6:p.Lys32825Asn
ENST00000342175.11:c.79560G>C (TTN)	ENSP00000340554.6:p.Lys26520Asn
ENST00000359218.10:c.79359G>C (TTN)	ENSP00000352154.5:p.Lys26453Asn
ENST00000342175.10:c.79560G>C (TTN)	ENSP00000340554.6:p.Lys26520Asn
ENST00000342992.10:c.98475G>C (TTN)	ENSP00000343764.6:p.Lys32825Asn
ENST00000359218.9:c.79359G>C (TTN)	ENSP00000352154.5:p.Lys26453Asn
ENST00000460472.6:c.78984G>C (TTN)	ENSP00000434586.1:p.Lys26328Asn
ENST00000589042.5:c.106179G>C (TTN) MANE Select	ENSP00000467141.1:p.Lys35393Asn
ENST00000591111.5:c.101256G>C (TTN)	ENSP00000465570.1:p.Lys33752Asn
ENST00000615779.4:c.101256G>C (TTN)	ENSP00000483597.1:p.Lys33752Asn
NM_001256850.1:c.101256G>C (TTN)	NP_001243779.1:p.Lys33752Asn
NM_001267550.2:c.106179G>C (TTN) MANE Select	NP_001254479.2:p.Lys35393Asn
NM_003319.4:c.78984G>C (TTN)	NP_003310.4:p.Lys26328Asn
NM_133378.4:c.98475G>C (TTN)	NP_596869.4:p.Lys32825Asn
NM_133432.3:c.79359G>C (TTN)	NP_597676.3:p.Lys26453Asn
NM_133437.4:c.79560G>C (TTN)	NP_597681.4:p.Lys26520Asn
NR_038271.1:n.446+6800C>G (TTN-AS1)
NR_038272.1:n.220-5296C>G (TTN-AS1)
XM_011511729.1:c.105276G>C (TTN)	XP_011510031.1:p.Lys35092Asn
XM_011511730.1:c.79170G>C (TTN)	XP_011510032.1:p.Lys26390Asn
XM_011511731.1:c.79029G>C (TTN)	XP_011510033.1:p.Lys26343Asn
XM_017004819.1:c.105072G>C (TTN)	XP_016860308.1:p.Lys35024Asn
XM_017004820.1:c.100470G>C (TTN)	XP_016860309.1:p.Lys33490Asn
XM_017004821.1:c.100467G>C (TTN)	XP_016860310.1:p.Lys33489Asn
XM_017004822.1:c.97509G>C (TTN)	XP_016860311.1:p.Lys32503Asn
XM_017004823.1:c.79125G>C (TTN)	XP_016860312.1:p.Lys26375Asn
XM_024453094.1:c.100620G>C (TTN)	XP_024308862.1:p.Lys33540Asn
XM_024453095.1:c.100617G>C (TTN)	XP_024308863.1:p.Lys33539Asn
XM_024453096.1:c.100050G>C (TTN)	XP_024308864.1:p.Lys33350Asn
XM_024453097.1:c.97392G>C (TTN)	XP_024308865.1:p.Lys32464Asn
XM_024453098.1:c.97311G>C (TTN)	XP_024308866.1:p.Lys32437Asn
XM_024453099.1:c.79074G>C (TTN)	XP_024308867.1:p.Lys26358Asn
XM_024453100.1:c.68928G>C (TTN)	XP_024308868.1:p.Lys22976Asn