Canonical Allele Identifier: CA16610279

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 404958
• ClinVar RCV Id: RCV000466161 ; RCV002225616 ; RCV002348266
• dbSNP Id: rs371332011
• MyVariant Identifiers: chr2:g.179428586G>A (hg19) ; chr2:g.178563859G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178563859G>A , CM000664.2:g.178563859G>A	GRCh38
NC_000002.11:g.179428586G>A , CM000664.1:g.179428586G>A	GRCh37
NC_000002.10:g.179136832G>A	NCBI36
NG_011618.3:g.271944C>T , LRG_391:g.271944C>T
NG_051363.1:g.46033G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.74569C>T (TTN)	ENSP00000343764.6:p.Gln24857Ter
ENST00000342175.11:c.55654C>T (TTN)	ENSP00000340554.6:p.Gln18552Ter
ENST00000359218.10:c.55453C>T (TTN)	ENSP00000352154.5:p.Gln18485Ter
ENST00000342175.10:c.55654C>T (TTN)	ENSP00000340554.6:p.Gln18552Ter
ENST00000342992.10:c.74569C>T (TTN)	ENSP00000343764.6:p.Gln24857Ter
ENST00000359218.9:c.55453C>T (TTN)	ENSP00000352154.5:p.Gln18485Ter
ENST00000460472.6:c.55078C>T (TTN)	ENSP00000434586.1:p.Gln18360Ter
ENST00000589042.5:c.82273C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln27425Ter
ENST00000591111.5:c.77350C>T (TTN)	ENSP00000465570.1:p.Gln25784Ter
ENST00000615779.4:c.77350C>T (TTN)	ENSP00000483597.1:p.Gln25784Ter
NM_001256850.1:c.77350C>T (TTN)	NP_001243779.1:p.Gln25784Ter
NM_001267550.2:c.82273C>T (TTN) MANE Select	NP_001254479.2:p.Gln27425Ter
NM_003319.4:c.55078C>T (TTN)	NP_003310.4:p.Gln18360Ter
NM_133378.4:c.74569C>T (TTN)	NP_596869.4:p.Gln24857Ter
NM_133432.3:c.55453C>T (TTN)	NP_597676.3:p.Gln18485Ter
NM_133437.4:c.55654C>T (TTN)	NP_597681.4:p.Gln18552Ter
NR_038271.1:n.447-7441G>A (TTN-AS1)
NR_038272.1:n.2044-18713G>A (TTN-AS1)
XM_011511729.1:c.81370C>T (TTN)	XP_011510031.1:p.Gln27124Ter
XM_011511730.1:c.55264C>T (TTN)	XP_011510032.1:p.Gln18422Ter
XM_011511731.1:c.55123C>T (TTN)	XP_011510033.1:p.Gln18375Ter
XM_017004819.1:c.81166C>T (TTN)	XP_016860308.1:p.Gln27056Ter
XM_017004820.1:c.76564C>T (TTN)	XP_016860309.1:p.Gln25522Ter
XM_017004821.1:c.76561C>T (TTN)	XP_016860310.1:p.Gln25521Ter
XM_017004822.1:c.73603C>T (TTN)	XP_016860311.1:p.Gln24535Ter
XM_017004823.1:c.55219C>T (TTN)	XP_016860312.1:p.Gln18407Ter
XM_024453094.1:c.76714C>T (TTN)	XP_024308862.1:p.Gln25572Ter
XM_024453095.1:c.76711C>T (TTN)	XP_024308863.1:p.Gln25571Ter
XM_024453096.1:c.76144C>T (TTN)	XP_024308864.1:p.Gln25382Ter
XM_024453097.1:c.73486C>T (TTN)	XP_024308865.1:p.Gln24496Ter
XM_024453098.1:c.73405C>T (TTN)	XP_024308866.1:p.Gln24469Ter
XM_024453099.1:c.55168C>T (TTN)	XP_024308867.1:p.Gln18390Ter
XM_024453100.1:c.45022C>T (TTN)	XP_024308868.1:p.Gln15008Ter