Canonical Allele Identifier: CA349481138

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178591106-A-G
• MyVariant Identifiers: chr2:g.179455833A>G (hg19) ; chr2:g.178591106A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591106A>G , CM000664.2:g.178591106A>G	GRCh38
NC_000002.11:g.179455833A>G , CM000664.1:g.179455833A>G	GRCh37
NC_000002.10:g.179164079A>G	NCBI36
NG_011618.3:g.244697T>C , LRG_391:g.244697T>C
NG_051363.1:g.73280A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52915T>C (TTN)	ENSP00000343764.6:p.Tyr17639His
ENST00000342175.11:c.34000T>C (TTN)	ENSP00000340554.6:p.Tyr11334His
ENST00000359218.10:c.33799T>C (TTN)	ENSP00000352154.5:p.Tyr11267His
ENST00000342175.10:c.34000T>C (TTN)	ENSP00000340554.6:p.Tyr11334His
ENST00000342992.10:c.52915T>C (TTN)	ENSP00000343764.6:p.Tyr17639His
ENST00000359218.9:c.33799T>C (TTN)	ENSP00000352154.5:p.Tyr11267His
ENST00000460472.6:c.33424T>C (TTN)	ENSP00000434586.1:p.Tyr11142His
ENST00000589042.5:c.60619T>C (TTN) MANE Select	ENSP00000467141.1:p.Tyr20207His
ENST00000591111.5:c.55696T>C (TTN)	ENSP00000465570.1:p.Tyr18566His
ENST00000615779.4:c.55696T>C (TTN)	ENSP00000483597.1:p.Tyr18566His
NM_001256850.1:c.55696T>C (TTN)	NP_001243779.1:p.Tyr18566His
NM_001267550.2:c.60619T>C (TTN) MANE Select	NP_001254479.2:p.Tyr20207His
NM_003319.4:c.33424T>C (TTN)	NP_003310.4:p.Tyr11142His
NM_133378.4:c.52915T>C (TTN)	NP_596869.4:p.Tyr17639His
NM_133432.3:c.33799T>C (TTN)	NP_597676.3:p.Tyr11267His
NM_133437.4:c.34000T>C (TTN)	NP_597681.4:p.Tyr11334His
NR_038271.1:n.597-6490A>G (TTN-AS1)
NR_038272.1:n.3189-33A>G (TTN-AS1)
XM_011511729.1:c.59716T>C (TTN)	XP_011510031.1:p.Tyr19906His
XM_011511730.1:c.33610T>C (TTN)	XP_011510032.1:p.Tyr11204His
XM_011511731.1:c.33469T>C (TTN)	XP_011510033.1:p.Tyr11157His
XM_017004819.1:c.59512T>C (TTN)	XP_016860308.1:p.Tyr19838His
XM_017004820.1:c.54910T>C (TTN)	XP_016860309.1:p.Tyr18304His
XM_017004821.1:c.54907T>C (TTN)	XP_016860310.1:p.Tyr18303His
XM_017004822.1:c.51949T>C (TTN)	XP_016860311.1:p.Tyr17317His
XM_017004823.1:c.33565T>C (TTN)	XP_016860312.1:p.Tyr11189His
XM_024453094.1:c.55060T>C (TTN)	XP_024308862.1:p.Tyr18354His
XM_024453095.1:c.55057T>C (TTN)	XP_024308863.1:p.Tyr18353His
XM_024453096.1:c.54490T>C (TTN)	XP_024308864.1:p.Tyr18164His
XM_024453097.1:c.51832T>C (TTN)	XP_024308865.1:p.Tyr17278His
XM_024453098.1:c.51751T>C (TTN)	XP_024308866.1:p.Tyr17251His
XM_024453099.1:c.33514T>C (TTN)	XP_024308867.1:p.Tyr11172His
XM_024453100.1:c.23368T>C (TTN)	XP_024308868.1:p.Tyr7790His