Canonical Allele Identifier: CA349411412

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1427358766
• gnomAD v4: 2-178532060-C-T
• MyVariant Identifiers: chr2:g.179396787C>T (hg19) ; chr2:g.178532060C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532060C>T , CM000664.2:g.178532060C>T	GRCh38
NC_000002.11:g.179396787C>T , CM000664.1:g.179396787C>T	GRCh37
NC_000002.10:g.179105033C>T	NCBI36
NG_011618.3:g.303743G>A , LRG_391:g.303743G>A
NG_051363.1:g.14234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96851G>A (TTN)	ENSP00000343764.6:p.Arg32284Lys
ENST00000342175.11:c.77936G>A (TTN)	ENSP00000340554.6:p.Arg25979Lys
ENST00000359218.10:c.77735G>A (TTN)	ENSP00000352154.5:p.Arg25912Lys
ENST00000342175.10:c.77936G>A (TTN)	ENSP00000340554.6:p.Arg25979Lys
ENST00000342992.10:c.96851G>A (TTN)	ENSP00000343764.6:p.Arg32284Lys
ENST00000359218.9:c.77735G>A (TTN)	ENSP00000352154.5:p.Arg25912Lys
ENST00000460472.6:c.77360G>A (TTN)	ENSP00000434586.1:p.Arg25787Lys
ENST00000589042.5:c.104555G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg34852Lys
ENST00000591111.5:c.99632G>A (TTN)	ENSP00000465570.1:p.Arg33211Lys
ENST00000615779.4:c.99632G>A (TTN)	ENSP00000483597.1:p.Arg33211Lys
NM_001256850.1:c.99632G>A (TTN)	NP_001243779.1:p.Arg33211Lys
NM_001267550.2:c.104555G>A (TTN) MANE Select	NP_001254479.2:p.Arg34852Lys
NM_003319.4:c.77360G>A (TTN)	NP_003310.4:p.Arg25787Lys
NM_133378.4:c.96851G>A (TTN)	NP_596869.4:p.Arg32284Lys
NM_133432.3:c.77735G>A (TTN)	NP_597676.3:p.Arg25912Lys
NM_133437.4:c.77936G>A (TTN)	NP_597681.4:p.Arg25979Lys
NR_038271.1:n.446+8424C>T (TTN-AS1)
NR_038272.1:n.220-3672C>T (TTN-AS1)
XM_011511729.1:c.103652G>A (TTN)	XP_011510031.1:p.Arg34551Lys
XM_011511730.1:c.77546G>A (TTN)	XP_011510032.1:p.Arg25849Lys
XM_011511731.1:c.77405G>A (TTN)	XP_011510033.1:p.Arg25802Lys
XM_017004819.1:c.103448G>A (TTN)	XP_016860308.1:p.Arg34483Lys
XM_017004820.1:c.98846G>A (TTN)	XP_016860309.1:p.Arg32949Lys
XM_017004821.1:c.98843G>A (TTN)	XP_016860310.1:p.Arg32948Lys
XM_017004822.1:c.95885G>A (TTN)	XP_016860311.1:p.Arg31962Lys
XM_017004823.1:c.77501G>A (TTN)	XP_016860312.1:p.Arg25834Lys
XM_024453094.1:c.98996G>A (TTN)	XP_024308862.1:p.Arg32999Lys
XM_024453095.1:c.98993G>A (TTN)	XP_024308863.1:p.Arg32998Lys
XM_024453096.1:c.98426G>A (TTN)	XP_024308864.1:p.Arg32809Lys
XM_024453097.1:c.95768G>A (TTN)	XP_024308865.1:p.Arg31923Lys
XM_024453098.1:c.95687G>A (TTN)	XP_024308866.1:p.Arg31896Lys
XM_024453099.1:c.77450G>A (TTN)	XP_024308867.1:p.Arg25817Lys
XM_024453100.1:c.67304G>A (TTN)	XP_024308868.1:p.Arg22435Lys