Canonical Allele Identifier: CA60974903

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs927540266
• gnomAD v4: 2-178549771-G-A
• MyVariant Identifiers: chr2:g.179414498G>A (hg19) ; chr2:g.178549771G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549771G>A , CM000664.2:g.178549771G>A	GRCh38
NC_000002.11:g.179414498G>A , CM000664.1:g.179414498G>A	GRCh37
NC_000002.10:g.179122744G>A	NCBI36
NG_011618.3:g.286032C>T , LRG_391:g.286032C>T
NG_051363.1:g.31945G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.84247C>T (TTN)	ENSP00000343764.6:p.Pro28083Ser
ENST00000342175.11:c.65332C>T (TTN)	ENSP00000340554.6:p.Pro21778Ser
ENST00000359218.10:c.65131C>T (TTN)	ENSP00000352154.5:p.Pro21711Ser
ENST00000342175.10:c.65332C>T (TTN)	ENSP00000340554.6:p.Pro21778Ser
ENST00000342992.10:c.84247C>T (TTN)	ENSP00000343764.6:p.Pro28083Ser
ENST00000359218.9:c.65131C>T (TTN)	ENSP00000352154.5:p.Pro21711Ser
ENST00000460472.6:c.64756C>T (TTN)	ENSP00000434586.1:p.Pro21586Ser
ENST00000589042.5:c.91951C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro30651Ser
ENST00000591111.5:c.87028C>T (TTN)	ENSP00000465570.1:p.Pro29010Ser
ENST00000615779.4:c.87028C>T (TTN)	ENSP00000483597.1:p.Pro29010Ser
NM_001256850.1:c.87028C>T (TTN)	NP_001243779.1:p.Pro29010Ser
NM_001267550.2:c.91951C>T (TTN) MANE Select	NP_001254479.2:p.Pro30651Ser
NM_003319.4:c.64756C>T (TTN)	NP_003310.4:p.Pro21586Ser
NM_133378.4:c.84247C>T (TTN)	NP_596869.4:p.Pro28083Ser
NM_133432.3:c.65131C>T (TTN)	NP_597676.3:p.Pro21711Ser
NM_133437.4:c.65332C>T (TTN)	NP_597681.4:p.Pro21778Ser
NR_038271.1:n.447-21529G>A (TTN-AS1)
NR_038272.1:n.2043+7410G>A (TTN-AS1)
XM_011511729.1:c.91048C>T (TTN)	XP_011510031.1:p.Pro30350Ser
XM_011511730.1:c.64942C>T (TTN)	XP_011510032.1:p.Pro21648Ser
XM_011511731.1:c.64801C>T (TTN)	XP_011510033.1:p.Pro21601Ser
XM_017004819.1:c.90844C>T (TTN)	XP_016860308.1:p.Pro30282Ser
XM_017004820.1:c.86242C>T (TTN)	XP_016860309.1:p.Pro28748Ser
XM_017004821.1:c.86239C>T (TTN)	XP_016860310.1:p.Pro28747Ser
XM_017004822.1:c.83281C>T (TTN)	XP_016860311.1:p.Pro27761Ser
XM_017004823.1:c.64897C>T (TTN)	XP_016860312.1:p.Pro21633Ser
XM_024453094.1:c.86392C>T (TTN)	XP_024308862.1:p.Pro28798Ser
XM_024453095.1:c.86389C>T (TTN)	XP_024308863.1:p.Pro28797Ser
XM_024453096.1:c.85822C>T (TTN)	XP_024308864.1:p.Pro28608Ser
XM_024453097.1:c.83164C>T (TTN)	XP_024308865.1:p.Pro27722Ser
XM_024453098.1:c.83083C>T (TTN)	XP_024308866.1:p.Pro27695Ser
XM_024453099.1:c.64846C>T (TTN)	XP_024308867.1:p.Pro21616Ser
XM_024453100.1:c.54700C>T (TTN)	XP_024308868.1:p.Pro18234Ser