Canonical Allele Identifier: CA349466243

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 448832
• ClinVar RCV Id: RCV000517946 ; RCV001851472
• dbSNP Id: rs1360232560
• gnomAD v2: 2-179410939-C-G
• gnomAD v4: 2-178546212-C-G
• MyVariant Identifiers: chr2:g.179410939C>G (hg19) ; chr2:g.178546212C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546212C>G , CM000664.2:g.178546212C>G	GRCh38
NC_000002.11:g.179410939C>G , CM000664.1:g.179410939C>G	GRCh37
NC_000002.10:g.179119185C>G	NCBI36
NG_011618.3:g.289591G>C , LRG_391:g.289591G>C
NG_051363.1:g.28386C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.87415G>C (TTN)	ENSP00000343764.6:p.Asp29139His
ENST00000342175.11:c.68500G>C (TTN)	ENSP00000340554.6:p.Asp22834His
ENST00000359218.10:c.68299G>C (TTN)	ENSP00000352154.5:p.Asp22767His
ENST00000342175.10:c.68500G>C (TTN)	ENSP00000340554.6:p.Asp22834His
ENST00000342992.10:c.87415G>C (TTN)	ENSP00000343764.6:p.Asp29139His
ENST00000359218.9:c.68299G>C (TTN)	ENSP00000352154.5:p.Asp22767His
ENST00000460472.6:c.67924G>C (TTN)	ENSP00000434586.1:p.Asp22642His
ENST00000589042.5:c.95119G>C (TTN) MANE Select	ENSP00000467141.1:p.Asp31707His
ENST00000591111.5:c.90196G>C (TTN)	ENSP00000465570.1:p.Asp30066His
ENST00000615779.4:c.90196G>C (TTN)	ENSP00000483597.1:p.Asp30066His
NM_001256850.1:c.90196G>C (TTN)	NP_001243779.1:p.Asp30066His
NM_001267550.2:c.95119G>C (TTN) MANE Select	NP_001254479.2:p.Asp31707His
NM_003319.4:c.67924G>C (TTN)	NP_003310.4:p.Asp22642His
NM_133378.4:c.87415G>C (TTN)	NP_596869.4:p.Asp29139His
NM_133432.3:c.68299G>C (TTN)	NP_597676.3:p.Asp22767His
NM_133437.4:c.68500G>C (TTN)	NP_597681.4:p.Asp22834His
NR_038271.1:n.446+22576C>G (TTN-AS1)
NR_038272.1:n.2043+3851C>G (TTN-AS1)
XM_011511729.1:c.94216G>C (TTN)	XP_011510031.1:p.Asp31406His
XM_011511730.1:c.68110G>C (TTN)	XP_011510032.1:p.Asp22704His
XM_011511731.1:c.67969G>C (TTN)	XP_011510033.1:p.Asp22657His
XM_017004819.1:c.94012G>C (TTN)	XP_016860308.1:p.Asp31338His
XM_017004820.1:c.89410G>C (TTN)	XP_016860309.1:p.Asp29804His
XM_017004821.1:c.89407G>C (TTN)	XP_016860310.1:p.Asp29803His
XM_017004822.1:c.86449G>C (TTN)	XP_016860311.1:p.Asp28817His
XM_017004823.1:c.68065G>C (TTN)	XP_016860312.1:p.Asp22689His
XM_024453094.1:c.89560G>C (TTN)	XP_024308862.1:p.Asp29854His
XM_024453095.1:c.89557G>C (TTN)	XP_024308863.1:p.Asp29853His
XM_024453096.1:c.88990G>C (TTN)	XP_024308864.1:p.Asp29664His
XM_024453097.1:c.86332G>C (TTN)	XP_024308865.1:p.Asp28778His
XM_024453098.1:c.86251G>C (TTN)	XP_024308866.1:p.Asp28751His
XM_024453099.1:c.68014G>C (TTN)	XP_024308867.1:p.Asp22672His
XM_024453100.1:c.57868G>C (TTN)	XP_024308868.1:p.Asp19290His