Canonical Allele Identifier: CA349612326

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1484287814
• gnomAD v2: 2-179433722-T-C
• gnomAD v4: 2-178568995-T-C
• MyVariant Identifiers: chr2:g.179433722T>C (hg19) ; chr2:g.178568995T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568995T>C , CM000664.2:g.178568995T>C	GRCh38
NC_000002.11:g.179433722T>C , CM000664.1:g.179433722T>C	GRCh37
NC_000002.10:g.179141968T>C	NCBI36
NG_011618.3:g.266808A>G , LRG_391:g.266808A>G
NG_051363.1:g.51169T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69433A>G (TTN)	ENSP00000343764.6:p.Asn23145Asp
ENST00000342175.11:c.50518A>G (TTN)	ENSP00000340554.6:p.Asn16840Asp
ENST00000359218.10:c.50317A>G (TTN)	ENSP00000352154.5:p.Asn16773Asp
ENST00000342175.10:c.50518A>G (TTN)	ENSP00000340554.6:p.Asn16840Asp
ENST00000342992.10:c.69433A>G (TTN)	ENSP00000343764.6:p.Asn23145Asp
ENST00000359218.9:c.50317A>G (TTN)	ENSP00000352154.5:p.Asn16773Asp
ENST00000460472.6:c.49942A>G (TTN)	ENSP00000434586.1:p.Asn16648Asp
ENST00000589042.5:c.77137A>G (TTN) MANE Select	ENSP00000467141.1:p.Asn25713Asp
ENST00000591111.5:c.72214A>G (TTN)	ENSP00000465570.1:p.Asn24072Asp
ENST00000615779.4:c.72214A>G (TTN)	ENSP00000483597.1:p.Asn24072Asp
NM_001256850.1:c.72214A>G (TTN)	NP_001243779.1:p.Asn24072Asp
NM_001267550.2:c.77137A>G (TTN) MANE Select	NP_001254479.2:p.Asn25713Asp
NM_003319.4:c.49942A>G (TTN)	NP_003310.4:p.Asn16648Asp
NM_133378.4:c.69433A>G (TTN)	NP_596869.4:p.Asn23145Asp
NM_133432.3:c.50317A>G (TTN)	NP_597676.3:p.Asn16773Asp
NM_133437.4:c.50518A>G (TTN)	NP_597681.4:p.Asn16840Asp
NR_038271.1:n.447-2305T>C (TTN-AS1)
NR_038272.1:n.2044-13577T>C (TTN-AS1)
XM_011511729.1:c.76234A>G (TTN)	XP_011510031.1:p.Asn25412Asp
XM_011511730.1:c.50128A>G (TTN)	XP_011510032.1:p.Asn16710Asp
XM_011511731.1:c.49987A>G (TTN)	XP_011510033.1:p.Asn16663Asp
XM_017004819.1:c.76030A>G (TTN)	XP_016860308.1:p.Asn25344Asp
XM_017004820.1:c.71428A>G (TTN)	XP_016860309.1:p.Asn23810Asp
XM_017004821.1:c.71425A>G (TTN)	XP_016860310.1:p.Asn23809Asp
XM_017004822.1:c.68467A>G (TTN)	XP_016860311.1:p.Asn22823Asp
XM_017004823.1:c.50083A>G (TTN)	XP_016860312.1:p.Asn16695Asp
XM_024453094.1:c.71578A>G (TTN)	XP_024308862.1:p.Asn23860Asp
XM_024453095.1:c.71575A>G (TTN)	XP_024308863.1:p.Asn23859Asp
XM_024453096.1:c.71008A>G (TTN)	XP_024308864.1:p.Asn23670Asp
XM_024453097.1:c.68350A>G (TTN)	XP_024308865.1:p.Asn22784Asp
XM_024453098.1:c.68269A>G (TTN)	XP_024308866.1:p.Asn22757Asp
XM_024453099.1:c.50032A>G (TTN)	XP_024308867.1:p.Asn16678Asp
XM_024453100.1:c.39886A>G (TTN)	XP_024308868.1:p.Asn13296Asp