Canonical Allele Identifier: CA10604539

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 283632
• ClinVar RCV Id: RCV000267629 ; RCV001424789
• dbSNP Id: rs886042668
• gnomAD v4: 2-178533502-A-G
• MyVariant Identifiers: chr2:g.179398229A>G (hg19) ; chr2:g.178533502A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178533502A>G , CM000664.2:g.178533502A>G	GRCh38
NC_000002.11:g.179398229A>G , CM000664.1:g.179398229A>G	GRCh37
NC_000002.10:g.179106475A>G	NCBI36
NG_011618.3:g.302301T>C , LRG_391:g.302301T>C
NG_051363.1:g.15676A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.95409T>C (TTN)	ENSP00000343764.6:p.Asn31803=
ENST00000342175.11:c.76494T>C (TTN)	ENSP00000340554.6:p.Asn25498=
ENST00000359218.10:c.76293T>C (TTN)	ENSP00000352154.5:p.Asn25431=
ENST00000342175.10:c.76494T>C (TTN)	ENSP00000340554.6:p.Asn25498=
ENST00000342992.10:c.95409T>C (TTN)	ENSP00000343764.6:p.Asn31803=
ENST00000359218.9:c.76293T>C (TTN)	ENSP00000352154.5:p.Asn25431=
ENST00000460472.6:c.75918T>C (TTN)	ENSP00000434586.1:p.Asn25306=
ENST00000589042.5:c.103113T>C (TTN) MANE Select	ENSP00000467141.1:p.Asn34371=
ENST00000591111.5:c.98190T>C (TTN)	ENSP00000465570.1:p.Asn32730=
ENST00000615779.4:c.98190T>C (TTN)	ENSP00000483597.1:p.Asn32730=
NM_001256850.1:c.98190T>C (TTN)	NP_001243779.1:p.Asn32730=
NM_001267550.2:c.103113T>C (TTN) MANE Select	NP_001254479.2:p.Asn34371=
NM_003319.4:c.75918T>C (TTN)	NP_003310.4:p.Asn25306=
NM_133378.4:c.95409T>C (TTN)	NP_596869.4:p.Asn31803=
NM_133432.3:c.76293T>C (TTN)	NP_597676.3:p.Asn25431=
NM_133437.4:c.76494T>C (TTN)	NP_597681.4:p.Asn25498=
NR_038271.1:n.446+9866A>G (TTN-AS1)
NR_038272.1:n.220-2230A>G (TTN-AS1)
XM_011511729.1:c.102210T>C (TTN)	XP_011510031.1:p.Asn34070=
XM_011511730.1:c.76104T>C (TTN)	XP_011510032.1:p.Asn25368=
XM_011511731.1:c.75963T>C (TTN)	XP_011510033.1:p.Asn25321=
XM_017004819.1:c.102006T>C (TTN)	XP_016860308.1:p.Asn34002=
XM_017004820.1:c.97404T>C (TTN)	XP_016860309.1:p.Asn32468=
XM_017004821.1:c.97401T>C (TTN)	XP_016860310.1:p.Asn32467=
XM_017004822.1:c.94443T>C (TTN)	XP_016860311.1:p.Asn31481=
XM_017004823.1:c.76059T>C (TTN)	XP_016860312.1:p.Asn25353=
XM_024453094.1:c.97554T>C (TTN)	XP_024308862.1:p.Asn32518=
XM_024453095.1:c.97551T>C (TTN)	XP_024308863.1:p.Asn32517=
XM_024453096.1:c.96984T>C (TTN)	XP_024308864.1:p.Asn32328=
XM_024453097.1:c.94326T>C (TTN)	XP_024308865.1:p.Asn31442=
XM_024453098.1:c.94245T>C (TTN)	XP_024308866.1:p.Asn31415=
XM_024453099.1:c.76008T>C (TTN)	XP_024308867.1:p.Asn25336=
XM_024453100.1:c.65862T>C (TTN)	XP_024308868.1:p.Asn21954=