Canonical Allele Identifier: CA273256

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 165855
• ClinVar RCV Id: RCV000152227 ; RCV000184257 ; RCV003764933
• dbSNP Id: rs727503567
• gnomAD v4: 2-178574811-C-T
• MyVariant Identifiers: chr2:g.179439538C>T (hg19) ; chr2:g.178574811C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574811C>T , CM000664.2:g.178574811C>T	GRCh38
NC_000002.11:g.179439538C>T , CM000664.1:g.179439538C>T	GRCh37
NC_000002.10:g.179147784C>T	NCBI36
NG_011618.3:g.260992G>A , LRG_391:g.260992G>A
NG_051363.1:g.56985C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.63617G>A (TTN)	ENSP00000343764.6:p.Trp21206Ter
ENST00000342175.11:c.44702G>A (TTN)	ENSP00000340554.6:p.Trp14901Ter
ENST00000359218.10:c.44501G>A (TTN)	ENSP00000352154.5:p.Trp14834Ter
ENST00000342175.10:c.44702G>A (TTN)	ENSP00000340554.6:p.Trp14901Ter
ENST00000342992.10:c.63617G>A (TTN)	ENSP00000343764.6:p.Trp21206Ter
ENST00000359218.9:c.44501G>A (TTN)	ENSP00000352154.5:p.Trp14834Ter
ENST00000460472.6:c.44126G>A (TTN)	ENSP00000434586.1:p.Trp14709Ter
ENST00000589042.5:c.71321G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp23774Ter
ENST00000591111.5:c.66398G>A (TTN)	ENSP00000465570.1:p.Trp22133Ter
ENST00000615779.4:c.66398G>A (TTN)	ENSP00000483597.1:p.Trp22133Ter
NM_001256850.1:c.66398G>A (TTN)	NP_001243779.1:p.Trp22133Ter
NM_001267550.2:c.71321G>A (TTN) MANE Select	NP_001254479.2:p.Trp23774Ter
NM_003319.4:c.44126G>A (TTN)	NP_003310.4:p.Trp14709Ter
NM_133378.4:c.63617G>A (TTN)	NP_596869.4:p.Trp21206Ter
NM_133432.3:c.44501G>A (TTN)	NP_597676.3:p.Trp14834Ter
NM_133437.4:c.44702G>A (TTN)	NP_597681.4:p.Trp14901Ter
NR_038271.1:n.596+3362C>T (TTN-AS1)
NR_038272.1:n.2044-7761C>T (TTN-AS1)
XM_011511729.1:c.70418G>A (TTN)	XP_011510031.1:p.Trp23473Ter
XM_011511730.1:c.44312G>A (TTN)	XP_011510032.1:p.Trp14771Ter
XM_011511731.1:c.44171G>A (TTN)	XP_011510033.1:p.Trp14724Ter
XM_017004819.1:c.70214G>A (TTN)	XP_016860308.1:p.Trp23405Ter
XM_017004820.1:c.65612G>A (TTN)	XP_016860309.1:p.Trp21871Ter
XM_017004821.1:c.65609G>A (TTN)	XP_016860310.1:p.Trp21870Ter
XM_017004822.1:c.62651G>A (TTN)	XP_016860311.1:p.Trp20884Ter
XM_017004823.1:c.44267G>A (TTN)	XP_016860312.1:p.Trp14756Ter
XM_024453094.1:c.65762G>A (TTN)	XP_024308862.1:p.Trp21921Ter
XM_024453095.1:c.65759G>A (TTN)	XP_024308863.1:p.Trp21920Ter
XM_024453096.1:c.65192G>A (TTN)	XP_024308864.1:p.Trp21731Ter
XM_024453097.1:c.62534G>A (TTN)	XP_024308865.1:p.Trp20845Ter
XM_024453098.1:c.62453G>A (TTN)	XP_024308866.1:p.Trp20818Ter
XM_024453099.1:c.44216G>A (TTN)	XP_024308867.1:p.Trp14739Ter
XM_024453100.1:c.34070G>A (TTN)	XP_024308868.1:p.Trp11357Ter