Canonical Allele Identifier: CA349411526

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1348216
• ClinVar RCV Id: RCV002044212
• dbSNP Id: rs2154134050
• MyVariant Identifiers: chr2:g.179396838C>G (hg19) ; chr2:g.178532111C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532111C>G , CM000664.2:g.178532111C>G	GRCh38
NC_000002.11:g.179396838C>G , CM000664.1:g.179396838C>G	GRCh37
NC_000002.10:g.179105084C>G	NCBI36
NG_011618.3:g.303692G>C , LRG_391:g.303692G>C
NG_051363.1:g.14285C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.96800G>C (TTN)	ENSP00000343764.6:p.Arg32267Thr
ENST00000342175.11:c.77885G>C (TTN)	ENSP00000340554.6:p.Arg25962Thr
ENST00000359218.10:c.77684G>C (TTN)	ENSP00000352154.5:p.Arg25895Thr
ENST00000342175.10:c.77885G>C (TTN)	ENSP00000340554.6:p.Arg25962Thr
ENST00000342992.10:c.96800G>C (TTN)	ENSP00000343764.6:p.Arg32267Thr
ENST00000359218.9:c.77684G>C (TTN)	ENSP00000352154.5:p.Arg25895Thr
ENST00000460472.6:c.77309G>C (TTN)	ENSP00000434586.1:p.Arg25770Thr
ENST00000589042.5:c.104504G>C (TTN) MANE Select	ENSP00000467141.1:p.Arg34835Thr
ENST00000591111.5:c.99581G>C (TTN)	ENSP00000465570.1:p.Arg33194Thr
ENST00000615779.4:c.99581G>C (TTN)	ENSP00000483597.1:p.Arg33194Thr
NM_001256850.1:c.99581G>C (TTN)	NP_001243779.1:p.Arg33194Thr
NM_001267550.2:c.104504G>C (TTN) MANE Select	NP_001254479.2:p.Arg34835Thr
NM_003319.4:c.77309G>C (TTN)	NP_003310.4:p.Arg25770Thr
NM_133378.4:c.96800G>C (TTN)	NP_596869.4:p.Arg32267Thr
NM_133432.3:c.77684G>C (TTN)	NP_597676.3:p.Arg25895Thr
NM_133437.4:c.77885G>C (TTN)	NP_597681.4:p.Arg25962Thr
NR_038271.1:n.446+8475C>G (TTN-AS1)
NR_038272.1:n.220-3621C>G (TTN-AS1)
XM_011511729.1:c.103601G>C (TTN)	XP_011510031.1:p.Arg34534Thr
XM_011511730.1:c.77495G>C (TTN)	XP_011510032.1:p.Arg25832Thr
XM_011511731.1:c.77354G>C (TTN)	XP_011510033.1:p.Arg25785Thr
XM_017004819.1:c.103397G>C (TTN)	XP_016860308.1:p.Arg34466Thr
XM_017004820.1:c.98795G>C (TTN)	XP_016860309.1:p.Arg32932Thr
XM_017004821.1:c.98792G>C (TTN)	XP_016860310.1:p.Arg32931Thr
XM_017004822.1:c.95834G>C (TTN)	XP_016860311.1:p.Arg31945Thr
XM_017004823.1:c.77450G>C (TTN)	XP_016860312.1:p.Arg25817Thr
XM_024453094.1:c.98945G>C (TTN)	XP_024308862.1:p.Arg32982Thr
XM_024453095.1:c.98942G>C (TTN)	XP_024308863.1:p.Arg32981Thr
XM_024453096.1:c.98375G>C (TTN)	XP_024308864.1:p.Arg32792Thr
XM_024453097.1:c.95717G>C (TTN)	XP_024308865.1:p.Arg31906Thr
XM_024453098.1:c.95636G>C (TTN)	XP_024308866.1:p.Arg31879Thr
XM_024453099.1:c.77399G>C (TTN)	XP_024308867.1:p.Arg25800Thr
XM_024453100.1:c.67253G>C (TTN)	XP_024308868.1:p.Arg22418Thr