Canonical Allele Identifier: CA1986912

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs752844593
• ExAC: 2:179410205 C / T
• gnomAD v2: 2-179410205-C-T
• gnomAD v4: 2-178545478-C-T
• MyVariant Identifiers: chr2:g.179410205C>T (hg19) ; chr2:g.178545478C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178545478C>T , CM000664.2:g.178545478C>T	GRCh38
NC_000002.11:g.179410205C>T , CM000664.1:g.179410205C>T	GRCh37
NC_000002.10:g.179118451C>T	NCBI36
NG_011618.3:g.290325G>A , LRG_391:g.290325G>A
NG_051363.1:g.27652C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.87928G>A (TTN)	ENSP00000343764.6:p.Asp29310Asn
ENST00000342175.11:c.69013G>A (TTN)	ENSP00000340554.6:p.Asp23005Asn
ENST00000359218.10:c.68812G>A (TTN)	ENSP00000352154.5:p.Asp22938Asn
ENST00000342175.10:c.69013G>A (TTN)	ENSP00000340554.6:p.Asp23005Asn
ENST00000342992.10:c.87928G>A (TTN)	ENSP00000343764.6:p.Asp29310Asn
ENST00000359218.9:c.68812G>A (TTN)	ENSP00000352154.5:p.Asp22938Asn
ENST00000460472.6:c.68437G>A (TTN)	ENSP00000434586.1:p.Asp22813Asn
ENST00000589042.5:c.95632G>A (TTN) MANE Select	ENSP00000467141.1:p.Asp31878Asn
ENST00000591111.5:c.90709G>A (TTN)	ENSP00000465570.1:p.Asp30237Asn
ENST00000615779.4:c.90709G>A (TTN)	ENSP00000483597.1:p.Asp30237Asn
NM_001256850.1:c.90709G>A (TTN)	NP_001243779.1:p.Asp30237Asn
NM_001267550.2:c.95632G>A (TTN) MANE Select	NP_001254479.2:p.Asp31878Asn
NM_003319.4:c.68437G>A (TTN)	NP_003310.4:p.Asp22813Asn
NM_133378.4:c.87928G>A (TTN)	NP_596869.4:p.Asp29310Asn
NM_133432.3:c.68812G>A (TTN)	NP_597676.3:p.Asp22938Asn
NM_133437.4:c.69013G>A (TTN)	NP_597681.4:p.Asp23005Asn
NR_038271.1:n.446+21842C>T (TTN-AS1)
NR_038272.1:n.2043+3117C>T (TTN-AS1)
XM_011511729.1:c.94729G>A (TTN)	XP_011510031.1:p.Asp31577Asn
XM_011511730.1:c.68623G>A (TTN)	XP_011510032.1:p.Asp22875Asn
XM_011511731.1:c.68482G>A (TTN)	XP_011510033.1:p.Asp22828Asn
XM_017004819.1:c.94525G>A (TTN)	XP_016860308.1:p.Asp31509Asn
XM_017004820.1:c.89923G>A (TTN)	XP_016860309.1:p.Asp29975Asn
XM_017004821.1:c.89920G>A (TTN)	XP_016860310.1:p.Asp29974Asn
XM_017004822.1:c.86962G>A (TTN)	XP_016860311.1:p.Asp28988Asn
XM_017004823.1:c.68578G>A (TTN)	XP_016860312.1:p.Asp22860Asn
XM_024453094.1:c.90073G>A (TTN)	XP_024308862.1:p.Asp30025Asn
XM_024453095.1:c.90070G>A (TTN)	XP_024308863.1:p.Asp30024Asn
XM_024453096.1:c.89503G>A (TTN)	XP_024308864.1:p.Asp29835Asn
XM_024453097.1:c.86845G>A (TTN)	XP_024308865.1:p.Asp28949Asn
XM_024453098.1:c.86764G>A (TTN)	XP_024308866.1:p.Asp28922Asn
XM_024453099.1:c.68527G>A (TTN)	XP_024308867.1:p.Asp22843Asn
XM_024453100.1:c.58381G>A (TTN)	XP_024308868.1:p.Asp19461Asn