Canonical Allele Identifier: CA349458052

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178544470-T-C
• MyVariant Identifiers: chr2:g.179409197T>C (hg19) ; chr2:g.178544470T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544470T>C , CM000664.2:g.178544470T>C	GRCh38
NC_000002.11:g.179409197T>C , CM000664.1:g.179409197T>C	GRCh37
NC_000002.10:g.179117443T>C	NCBI36
NG_011618.3:g.291333A>G , LRG_391:g.291333A>G
NG_051363.1:g.26644T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88055A>G (TTN)	ENSP00000343764.6:p.Asp29352Gly
ENST00000342175.11:c.69140A>G (TTN)	ENSP00000340554.6:p.Asp23047Gly
ENST00000359218.10:c.68939A>G (TTN)	ENSP00000352154.5:p.Asp22980Gly
ENST00000342175.10:c.69140A>G (TTN)	ENSP00000340554.6:p.Asp23047Gly
ENST00000342992.10:c.88055A>G (TTN)	ENSP00000343764.6:p.Asp29352Gly
ENST00000359218.9:c.68939A>G (TTN)	ENSP00000352154.5:p.Asp22980Gly
ENST00000460472.6:c.68564A>G (TTN)	ENSP00000434586.1:p.Asp22855Gly
ENST00000589042.5:c.95759A>G (TTN) MANE Select	ENSP00000467141.1:p.Asp31920Gly
ENST00000591111.5:c.90836A>G (TTN)	ENSP00000465570.1:p.Asp30279Gly
ENST00000615779.4:c.90836A>G (TTN)	ENSP00000483597.1:p.Asp30279Gly
NM_001256850.1:c.90836A>G (TTN)	NP_001243779.1:p.Asp30279Gly
NM_001267550.2:c.95759A>G (TTN) MANE Select	NP_001254479.2:p.Asp31920Gly
NM_003319.4:c.68564A>G (TTN)	NP_003310.4:p.Asp22855Gly
NM_133378.4:c.88055A>G (TTN)	NP_596869.4:p.Asp29352Gly
NM_133432.3:c.68939A>G (TTN)	NP_597676.3:p.Asp22980Gly
NM_133437.4:c.69140A>G (TTN)	NP_597681.4:p.Asp23047Gly
NR_038271.1:n.446+20834T>C (TTN-AS1)
NR_038272.1:n.2043+2109T>C (TTN-AS1)
XM_011511729.1:c.94856A>G (TTN)	XP_011510031.1:p.Asp31619Gly
XM_011511730.1:c.68750A>G (TTN)	XP_011510032.1:p.Asp22917Gly
XM_011511731.1:c.68609A>G (TTN)	XP_011510033.1:p.Asp22870Gly
XM_017004819.1:c.94652A>G (TTN)	XP_016860308.1:p.Asp31551Gly
XM_017004820.1:c.90050A>G (TTN)	XP_016860309.1:p.Asp30017Gly
XM_017004821.1:c.90047A>G (TTN)	XP_016860310.1:p.Asp30016Gly
XM_017004822.1:c.87089A>G (TTN)	XP_016860311.1:p.Asp29030Gly
XM_017004823.1:c.68705A>G (TTN)	XP_016860312.1:p.Asp22902Gly
XM_024453094.1:c.90200A>G (TTN)	XP_024308862.1:p.Asp30067Gly
XM_024453095.1:c.90197A>G (TTN)	XP_024308863.1:p.Asp30066Gly
XM_024453096.1:c.89630A>G (TTN)	XP_024308864.1:p.Asp29877Gly
XM_024453097.1:c.86972A>G (TTN)	XP_024308865.1:p.Asp28991Gly
XM_024453098.1:c.86891A>G (TTN)	XP_024308866.1:p.Asp28964Gly
XM_024453099.1:c.68654A>G (TTN)	XP_024308867.1:p.Asp22885Gly
XM_024453100.1:c.58508A>G (TTN)	XP_024308868.1:p.Asp19503Gly