Canonical Allele Identifier: CA1992442

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs72646844
• ExAC: 2:179455634 G / A
• gnomAD v2: 2-179455634-G-A
• gnomAD v3: 2-178590907-G-A
• gnomAD v4: 2-178590907-G-A
• COSMIC: COSM4763856 ; COSM4763857 ; COSM4763858 ; COSM4763859
• MyVariant Identifiers: chr2:g.179455634G>A (hg19) ; chr2:g.178590907G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178590907G>A , CM000664.2:g.178590907G>A	GRCh38
NC_000002.11:g.179455634G>A , CM000664.1:g.179455634G>A	GRCh37
NC_000002.10:g.179163880G>A	NCBI36
NG_011618.3:g.244896C>T , LRG_391:g.244896C>T
NG_051363.1:g.73081G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53114C>T (TTN)	ENSP00000343764.6:p.Ser17705Phe
ENST00000342175.11:c.34199C>T (TTN)	ENSP00000340554.6:p.Ser11400Phe
ENST00000359218.10:c.33998C>T (TTN)	ENSP00000352154.5:p.Ser11333Phe
ENST00000342175.10:c.34199C>T (TTN)	ENSP00000340554.6:p.Ser11400Phe
ENST00000342992.10:c.53114C>T (TTN)	ENSP00000343764.6:p.Ser17705Phe
ENST00000359218.9:c.33998C>T (TTN)	ENSP00000352154.5:p.Ser11333Phe
ENST00000460472.6:c.33623C>T (TTN)	ENSP00000434586.1:p.Ser11208Phe
ENST00000589042.5:c.60818C>T (TTN) MANE Select	ENSP00000467141.1:p.Ser20273Phe
ENST00000591111.5:c.55895C>T (TTN)	ENSP00000465570.1:p.Ser18632Phe
ENST00000615779.4:c.55895C>T (TTN)	ENSP00000483597.1:p.Ser18632Phe
NM_001256850.1:c.55895C>T (TTN)	NP_001243779.1:p.Ser18632Phe
NM_001267550.2:c.60818C>T (TTN) MANE Select	NP_001254479.2:p.Ser20273Phe
NM_003319.4:c.33623C>T (TTN)	NP_003310.4:p.Ser11208Phe
NM_133378.4:c.53114C>T (TTN)	NP_596869.4:p.Ser17705Phe
NM_133432.3:c.33998C>T (TTN)	NP_597676.3:p.Ser11333Phe
NM_133437.4:c.34199C>T (TTN)	NP_597681.4:p.Ser11400Phe
NR_038271.1:n.597-6689G>A (TTN-AS1)
NR_038272.1:n.3189-232G>A (TTN-AS1)
XM_011511729.1:c.59915C>T (TTN)	XP_011510031.1:p.Ser19972Phe
XM_011511730.1:c.33809C>T (TTN)	XP_011510032.1:p.Ser11270Phe
XM_011511731.1:c.33668C>T (TTN)	XP_011510033.1:p.Ser11223Phe
XM_017004819.1:c.59711C>T (TTN)	XP_016860308.1:p.Ser19904Phe
XM_017004820.1:c.55109C>T (TTN)	XP_016860309.1:p.Ser18370Phe
XM_017004821.1:c.55106C>T (TTN)	XP_016860310.1:p.Ser18369Phe
XM_017004822.1:c.52148C>T (TTN)	XP_016860311.1:p.Ser17383Phe
XM_017004823.1:c.33764C>T (TTN)	XP_016860312.1:p.Ser11255Phe
XM_024453094.1:c.55259C>T (TTN)	XP_024308862.1:p.Ser18420Phe
XM_024453095.1:c.55256C>T (TTN)	XP_024308863.1:p.Ser18419Phe
XM_024453096.1:c.54689C>T (TTN)	XP_024308864.1:p.Ser18230Phe
XM_024453097.1:c.52031C>T (TTN)	XP_024308865.1:p.Ser17344Phe
XM_024453098.1:c.51950C>T (TTN)	XP_024308866.1:p.Ser17317Phe
XM_024453099.1:c.33713C>T (TTN)	XP_024308867.1:p.Ser11238Phe
XM_024453100.1:c.23567C>T (TTN)	XP_024308868.1:p.Ser7856Phe