Canonical Allele Identifier: CA349457980

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178544462-T-C
• MyVariant Identifiers: chr2:g.179409189T>C (hg19) ; chr2:g.178544462T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544462T>C , CM000664.2:g.178544462T>C	GRCh38
NC_000002.11:g.179409189T>C , CM000664.1:g.179409189T>C	GRCh37
NC_000002.10:g.179117435T>C	NCBI36
NG_011618.3:g.291341A>G , LRG_391:g.291341A>G
NG_051363.1:g.26636T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88063A>G (TTN)	ENSP00000343764.6:p.Lys29355Glu
ENST00000342175.11:c.69148A>G (TTN)	ENSP00000340554.6:p.Lys23050Glu
ENST00000359218.10:c.68947A>G (TTN)	ENSP00000352154.5:p.Lys22983Glu
ENST00000342175.10:c.69148A>G (TTN)	ENSP00000340554.6:p.Lys23050Glu
ENST00000342992.10:c.88063A>G (TTN)	ENSP00000343764.6:p.Lys29355Glu
ENST00000359218.9:c.68947A>G (TTN)	ENSP00000352154.5:p.Lys22983Glu
ENST00000460472.6:c.68572A>G (TTN)	ENSP00000434586.1:p.Lys22858Glu
ENST00000589042.5:c.95767A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys31923Glu
ENST00000591111.5:c.90844A>G (TTN)	ENSP00000465570.1:p.Lys30282Glu
ENST00000615779.4:c.90844A>G (TTN)	ENSP00000483597.1:p.Lys30282Glu
NM_001256850.1:c.90844A>G (TTN)	NP_001243779.1:p.Lys30282Glu
NM_001267550.2:c.95767A>G (TTN) MANE Select	NP_001254479.2:p.Lys31923Glu
NM_003319.4:c.68572A>G (TTN)	NP_003310.4:p.Lys22858Glu
NM_133378.4:c.88063A>G (TTN)	NP_596869.4:p.Lys29355Glu
NM_133432.3:c.68947A>G (TTN)	NP_597676.3:p.Lys22983Glu
NM_133437.4:c.69148A>G (TTN)	NP_597681.4:p.Lys23050Glu
NR_038271.1:n.446+20826T>C (TTN-AS1)
NR_038272.1:n.2043+2101T>C (TTN-AS1)
XM_011511729.1:c.94864A>G (TTN)	XP_011510031.1:p.Lys31622Glu
XM_011511730.1:c.68758A>G (TTN)	XP_011510032.1:p.Lys22920Glu
XM_011511731.1:c.68617A>G (TTN)	XP_011510033.1:p.Lys22873Glu
XM_017004819.1:c.94660A>G (TTN)	XP_016860308.1:p.Lys31554Glu
XM_017004820.1:c.90058A>G (TTN)	XP_016860309.1:p.Lys30020Glu
XM_017004821.1:c.90055A>G (TTN)	XP_016860310.1:p.Lys30019Glu
XM_017004822.1:c.87097A>G (TTN)	XP_016860311.1:p.Lys29033Glu
XM_017004823.1:c.68713A>G (TTN)	XP_016860312.1:p.Lys22905Glu
XM_024453094.1:c.90208A>G (TTN)	XP_024308862.1:p.Lys30070Glu
XM_024453095.1:c.90205A>G (TTN)	XP_024308863.1:p.Lys30069Glu
XM_024453096.1:c.89638A>G (TTN)	XP_024308864.1:p.Lys29880Glu
XM_024453097.1:c.86980A>G (TTN)	XP_024308865.1:p.Lys28994Glu
XM_024453098.1:c.86899A>G (TTN)	XP_024308866.1:p.Lys28967Glu
XM_024453099.1:c.68662A>G (TTN)	XP_024308867.1:p.Lys22888Glu
XM_024453100.1:c.58516A>G (TTN)	XP_024308868.1:p.Lys19506Glu