Canonical Allele Identifier: CA311118

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 203060
• ClinVar RCV Id: RCV000185076 ; RCV003137748
• dbSNP Id: rs794729559
• MyVariant Identifiers: chr2:g.179400892T>C (hg19) ; chr2:g.178536165T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178536165T>C , CM000664.2:g.178536165T>C	GRCh38
NC_000002.11:g.179400892T>C , CM000664.1:g.179400892T>C	GRCh37
NC_000002.10:g.179109138T>C	NCBI36
NG_011618.3:g.299638A>G , LRG_391:g.299638A>G
NG_051363.1:g.18339T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92878A>G (TTN)	ENSP00000343764.6:p.Lys30960Glu
ENST00000342175.11:c.73963A>G (TTN)	ENSP00000340554.6:p.Lys24655Glu
ENST00000359218.10:c.73762A>G (TTN)	ENSP00000352154.5:p.Lys24588Glu
ENST00000342175.10:c.73963A>G (TTN)	ENSP00000340554.6:p.Lys24655Glu
ENST00000342992.10:c.92878A>G (TTN)	ENSP00000343764.6:p.Lys30960Glu
ENST00000359218.9:c.73762A>G (TTN)	ENSP00000352154.5:p.Lys24588Glu
ENST00000460472.6:c.73387A>G (TTN)	ENSP00000434586.1:p.Lys24463Glu
ENST00000589042.5:c.100582A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys33528Glu
ENST00000591111.5:c.95659A>G (TTN)	ENSP00000465570.1:p.Lys31887Glu
ENST00000615779.4:c.95659A>G (TTN)	ENSP00000483597.1:p.Lys31887Glu
NM_001256850.1:c.95659A>G (TTN)	NP_001243779.1:p.Lys31887Glu
NM_001267550.2:c.100582A>G (TTN) MANE Select	NP_001254479.2:p.Lys33528Glu
NM_003319.4:c.73387A>G (TTN)	NP_003310.4:p.Lys24463Glu
NM_133378.4:c.92878A>G (TTN)	NP_596869.4:p.Lys30960Glu
NM_133432.3:c.73762A>G (TTN)	NP_597676.3:p.Lys24588Glu
NM_133437.4:c.73963A>G (TTN)	NP_597681.4:p.Lys24655Glu
NR_038271.1:n.446+12529T>C (TTN-AS1)
NR_038272.1:n.316+337T>C (TTN-AS1)
XM_011511729.1:c.99679A>G (TTN)	XP_011510031.1:p.Lys33227Glu
XM_011511730.1:c.73573A>G (TTN)	XP_011510032.1:p.Lys24525Glu
XM_011511731.1:c.73432A>G (TTN)	XP_011510033.1:p.Lys24478Glu
XM_017004819.1:c.99475A>G (TTN)	XP_016860308.1:p.Lys33159Glu
XM_017004820.1:c.94873A>G (TTN)	XP_016860309.1:p.Lys31625Glu
XM_017004821.1:c.94870A>G (TTN)	XP_016860310.1:p.Lys31624Glu
XM_017004822.1:c.91912A>G (TTN)	XP_016860311.1:p.Lys30638Glu
XM_017004823.1:c.73528A>G (TTN)	XP_016860312.1:p.Lys24510Glu
XM_024453094.1:c.95023A>G (TTN)	XP_024308862.1:p.Lys31675Glu
XM_024453095.1:c.95020A>G (TTN)	XP_024308863.1:p.Lys31674Glu
XM_024453096.1:c.94453A>G (TTN)	XP_024308864.1:p.Lys31485Glu
XM_024453097.1:c.91795A>G (TTN)	XP_024308865.1:p.Lys30599Glu
XM_024453098.1:c.91714A>G (TTN)	XP_024308866.1:p.Lys30572Glu
XM_024453099.1:c.73477A>G (TTN)	XP_024308867.1:p.Lys24493Glu
XM_024453100.1:c.63331A>G (TTN)	XP_024308868.1:p.Lys21111Glu