Canonical Allele Identifier: CA60993270

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs774259989
• gnomAD v4: 2-178568994-T-C
• MyVariant Identifiers: chr2:g.179433721T>C (hg19) ; chr2:g.178568994T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568994T>C , CM000664.2:g.178568994T>C	GRCh38
NC_000002.11:g.179433721T>C , CM000664.1:g.179433721T>C	GRCh37
NC_000002.10:g.179141967T>C	NCBI36
NG_011618.3:g.266809A>G , LRG_391:g.266809A>G
NG_051363.1:g.51168T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69434A>G (TTN)	ENSP00000343764.6:p.Asn23145Ser
ENST00000342175.11:c.50519A>G (TTN)	ENSP00000340554.6:p.Asn16840Ser
ENST00000359218.10:c.50318A>G (TTN)	ENSP00000352154.5:p.Asn16773Ser
ENST00000342175.10:c.50519A>G (TTN)	ENSP00000340554.6:p.Asn16840Ser
ENST00000342992.10:c.69434A>G (TTN)	ENSP00000343764.6:p.Asn23145Ser
ENST00000359218.9:c.50318A>G (TTN)	ENSP00000352154.5:p.Asn16773Ser
ENST00000460472.6:c.49943A>G (TTN)	ENSP00000434586.1:p.Asn16648Ser
ENST00000589042.5:c.77138A>G (TTN) MANE Select	ENSP00000467141.1:p.Asn25713Ser
ENST00000591111.5:c.72215A>G (TTN)	ENSP00000465570.1:p.Asn24072Ser
ENST00000615779.4:c.72215A>G (TTN)	ENSP00000483597.1:p.Asn24072Ser
NM_001256850.1:c.72215A>G (TTN)	NP_001243779.1:p.Asn24072Ser
NM_001267550.2:c.77138A>G (TTN) MANE Select	NP_001254479.2:p.Asn25713Ser
NM_003319.4:c.49943A>G (TTN)	NP_003310.4:p.Asn16648Ser
NM_133378.4:c.69434A>G (TTN)	NP_596869.4:p.Asn23145Ser
NM_133432.3:c.50318A>G (TTN)	NP_597676.3:p.Asn16773Ser
NM_133437.4:c.50519A>G (TTN)	NP_597681.4:p.Asn16840Ser
NR_038271.1:n.447-2306T>C (TTN-AS1)
NR_038272.1:n.2044-13578T>C (TTN-AS1)
XM_011511729.1:c.76235A>G (TTN)	XP_011510031.1:p.Asn25412Ser
XM_011511730.1:c.50129A>G (TTN)	XP_011510032.1:p.Asn16710Ser
XM_011511731.1:c.49988A>G (TTN)	XP_011510033.1:p.Asn16663Ser
XM_017004819.1:c.76031A>G (TTN)	XP_016860308.1:p.Asn25344Ser
XM_017004820.1:c.71429A>G (TTN)	XP_016860309.1:p.Asn23810Ser
XM_017004821.1:c.71426A>G (TTN)	XP_016860310.1:p.Asn23809Ser
XM_017004822.1:c.68468A>G (TTN)	XP_016860311.1:p.Asn22823Ser
XM_017004823.1:c.50084A>G (TTN)	XP_016860312.1:p.Asn16695Ser
XM_024453094.1:c.71579A>G (TTN)	XP_024308862.1:p.Asn23860Ser
XM_024453095.1:c.71576A>G (TTN)	XP_024308863.1:p.Asn23859Ser
XM_024453096.1:c.71009A>G (TTN)	XP_024308864.1:p.Asn23670Ser
XM_024453097.1:c.68351A>G (TTN)	XP_024308865.1:p.Asn22784Ser
XM_024453098.1:c.68270A>G (TTN)	XP_024308866.1:p.Asn22757Ser
XM_024453099.1:c.50033A>G (TTN)	XP_024308867.1:p.Asn16678Ser
XM_024453100.1:c.39887A>G (TTN)	XP_024308868.1:p.Asn13296Ser