Canonical Allele Identifier: CA430245628

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1426971934
• gnomAD v4: 2-178552678-T-C
• MyVariant Identifiers: chr2:g.179417405T>C (hg19) ; chr2:g.178552678T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552678T>C , CM000664.2:g.178552678T>C	GRCh38
NC_000002.11:g.179417405T>C , CM000664.1:g.179417405T>C	GRCh37
NC_000002.10:g.179125651T>C	NCBI36
NG_011618.3:g.283125A>G , LRG_391:g.283125A>G
NG_051363.1:g.34852T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82518A>G (TTN)	ENSP00000343764.6:p.Glu27506=
ENST00000342175.11:c.63603A>G (TTN)	ENSP00000340554.6:p.Glu21201=
ENST00000359218.10:c.63402A>G (TTN)	ENSP00000352154.5:p.Glu21134=
ENST00000342175.10:c.63603A>G (TTN)	ENSP00000340554.6:p.Glu21201=
ENST00000342992.10:c.82518A>G (TTN)	ENSP00000343764.6:p.Glu27506=
ENST00000359218.9:c.63402A>G (TTN)	ENSP00000352154.5:p.Glu21134=
ENST00000460472.6:c.63027A>G (TTN)	ENSP00000434586.1:p.Glu21009=
ENST00000589042.5:c.90222A>G (TTN) MANE Select	ENSP00000467141.1:p.Glu30074=
ENST00000591111.5:c.85299A>G (TTN)	ENSP00000465570.1:p.Glu28433=
ENST00000615779.4:c.85299A>G (TTN)	ENSP00000483597.1:p.Glu28433=
NM_001256850.1:c.85299A>G (TTN)	NP_001243779.1:p.Glu28433=
NM_001267550.2:c.90222A>G (TTN) MANE Select	NP_001254479.2:p.Glu30074=
NM_003319.4:c.63027A>G (TTN)	NP_003310.4:p.Glu21009=
NM_133378.4:c.82518A>G (TTN)	NP_596869.4:p.Glu27506=
NM_133432.3:c.63402A>G (TTN)	NP_597676.3:p.Glu21134=
NM_133437.4:c.63603A>G (TTN)	NP_597681.4:p.Glu21201=
NR_038271.1:n.447-18622T>C (TTN-AS1)
NR_038272.1:n.2043+10317T>C (TTN-AS1)
XM_011511729.1:c.89319A>G (TTN)	XP_011510031.1:p.Glu29773=
XM_011511730.1:c.63213A>G (TTN)	XP_011510032.1:p.Glu21071=
XM_011511731.1:c.63072A>G (TTN)	XP_011510033.1:p.Glu21024=
XM_017004819.1:c.89115A>G (TTN)	XP_016860308.1:p.Glu29705=
XM_017004820.1:c.84513A>G (TTN)	XP_016860309.1:p.Glu28171=
XM_017004821.1:c.84510A>G (TTN)	XP_016860310.1:p.Glu28170=
XM_017004822.1:c.81552A>G (TTN)	XP_016860311.1:p.Glu27184=
XM_017004823.1:c.63168A>G (TTN)	XP_016860312.1:p.Glu21056=
XM_024453094.1:c.84663A>G (TTN)	XP_024308862.1:p.Glu28221=
XM_024453095.1:c.84660A>G (TTN)	XP_024308863.1:p.Glu28220=
XM_024453096.1:c.84093A>G (TTN)	XP_024308864.1:p.Glu28031=
XM_024453097.1:c.81435A>G (TTN)	XP_024308865.1:p.Glu27145=
XM_024453098.1:c.81354A>G (TTN)	XP_024308866.1:p.Glu27118=
XM_024453099.1:c.63117A>G (TTN)	XP_024308867.1:p.Glu21039=
XM_024453100.1:c.52971A>G (TTN)	XP_024308868.1:p.Glu17657=