Canonical Allele Identifier: CA349581334

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1248956657
• gnomAD v2: 2-179429344-T-C
• gnomAD v4: 2-178564617-T-C
• MyVariant Identifiers: chr2:g.179429344T>C (hg19) ; chr2:g.178564617T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564617T>C , CM000664.2:g.178564617T>C	GRCh38
NC_000002.11:g.179429344T>C , CM000664.1:g.179429344T>C	GRCh37
NC_000002.10:g.179137590T>C	NCBI36
NG_011618.3:g.271186A>G , LRG_391:g.271186A>G
NG_051363.1:g.46791T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73811A>G (TTN)	ENSP00000343764.6:p.Asp24604Gly
ENST00000342175.11:c.54896A>G (TTN)	ENSP00000340554.6:p.Asp18299Gly
ENST00000359218.10:c.54695A>G (TTN)	ENSP00000352154.5:p.Asp18232Gly
ENST00000342175.10:c.54896A>G (TTN)	ENSP00000340554.6:p.Asp18299Gly
ENST00000342992.10:c.73811A>G (TTN)	ENSP00000343764.6:p.Asp24604Gly
ENST00000359218.9:c.54695A>G (TTN)	ENSP00000352154.5:p.Asp18232Gly
ENST00000460472.6:c.54320A>G (TTN)	ENSP00000434586.1:p.Asp18107Gly
ENST00000589042.5:c.81515A>G (TTN) MANE Select	ENSP00000467141.1:p.Asp27172Gly
ENST00000591111.5:c.76592A>G (TTN)	ENSP00000465570.1:p.Asp25531Gly
ENST00000615779.4:c.76592A>G (TTN)	ENSP00000483597.1:p.Asp25531Gly
NM_001256850.1:c.76592A>G (TTN)	NP_001243779.1:p.Asp25531Gly
NM_001267550.2:c.81515A>G (TTN) MANE Select	NP_001254479.2:p.Asp27172Gly
NM_003319.4:c.54320A>G (TTN)	NP_003310.4:p.Asp18107Gly
NM_133378.4:c.73811A>G (TTN)	NP_596869.4:p.Asp24604Gly
NM_133432.3:c.54695A>G (TTN)	NP_597676.3:p.Asp18232Gly
NM_133437.4:c.54896A>G (TTN)	NP_597681.4:p.Asp18299Gly
NR_038271.1:n.447-6683T>C (TTN-AS1)
NR_038272.1:n.2044-17955T>C (TTN-AS1)
XM_011511729.1:c.80612A>G (TTN)	XP_011510031.1:p.Asp26871Gly
XM_011511730.1:c.54506A>G (TTN)	XP_011510032.1:p.Asp18169Gly
XM_011511731.1:c.54365A>G (TTN)	XP_011510033.1:p.Asp18122Gly
XM_017004819.1:c.80408A>G (TTN)	XP_016860308.1:p.Asp26803Gly
XM_017004820.1:c.75806A>G (TTN)	XP_016860309.1:p.Asp25269Gly
XM_017004821.1:c.75803A>G (TTN)	XP_016860310.1:p.Asp25268Gly
XM_017004822.1:c.72845A>G (TTN)	XP_016860311.1:p.Asp24282Gly
XM_017004823.1:c.54461A>G (TTN)	XP_016860312.1:p.Asp18154Gly
XM_024453094.1:c.75956A>G (TTN)	XP_024308862.1:p.Asp25319Gly
XM_024453095.1:c.75953A>G (TTN)	XP_024308863.1:p.Asp25318Gly
XM_024453096.1:c.75386A>G (TTN)	XP_024308864.1:p.Asp25129Gly
XM_024453097.1:c.72728A>G (TTN)	XP_024308865.1:p.Asp24243Gly
XM_024453098.1:c.72647A>G (TTN)	XP_024308866.1:p.Asp24216Gly
XM_024453099.1:c.54410A>G (TTN)	XP_024308867.1:p.Asp18137Gly
XM_024453100.1:c.44264A>G (TTN)	XP_024308868.1:p.Asp14755Gly