Canonical Allele Identifier: CA1986727

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs770687347
• ExAC: 2:179408034 G / A
• gnomAD v2: 2-179408034-G-A
• gnomAD v4: 2-178543307-G-A
• MyVariant Identifiers: chr2:g.179408034G>A (hg19) ; chr2:g.178543307G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543307G>A , CM000664.2:g.178543307G>A	GRCh38
NC_000002.11:g.179408034G>A , CM000664.1:g.179408034G>A	GRCh37
NC_000002.10:g.179116280G>A	NCBI36
NG_011618.3:g.292496C>T , LRG_391:g.292496C>T
NG_051363.1:g.25481G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88962C>T (TTN)	ENSP00000343764.6:p.Ala29654=
ENST00000342175.11:c.70047C>T (TTN)	ENSP00000340554.6:p.Ala23349=
ENST00000359218.10:c.69846C>T (TTN)	ENSP00000352154.5:p.Ala23282=
ENST00000342175.10:c.70047C>T (TTN)	ENSP00000340554.6:p.Ala23349=
ENST00000342992.10:c.88962C>T (TTN)	ENSP00000343764.6:p.Ala29654=
ENST00000359218.9:c.69846C>T (TTN)	ENSP00000352154.5:p.Ala23282=
ENST00000460472.6:c.69471C>T (TTN)	ENSP00000434586.1:p.Ala23157=
ENST00000589042.5:c.96666C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala32222=
ENST00000591111.5:c.91743C>T (TTN)	ENSP00000465570.1:p.Ala30581=
ENST00000615779.4:c.91743C>T (TTN)	ENSP00000483597.1:p.Ala30581=
NM_001256850.1:c.91743C>T (TTN)	NP_001243779.1:p.Ala30581=
NM_001267550.2:c.96666C>T (TTN) MANE Select	NP_001254479.2:p.Ala32222=
NM_003319.4:c.69471C>T (TTN)	NP_003310.4:p.Ala23157=
NM_133378.4:c.88962C>T (TTN)	NP_596869.4:p.Ala29654=
NM_133432.3:c.69846C>T (TTN)	NP_597676.3:p.Ala23282=
NM_133437.4:c.70047C>T (TTN)	NP_597681.4:p.Ala23349=
NR_038271.1:n.446+19671G>A (TTN-AS1)
NR_038272.1:n.2043+946G>A (TTN-AS1)
XM_011511729.1:c.95763C>T (TTN)	XP_011510031.1:p.Ala31921=
XM_011511730.1:c.69657C>T (TTN)	XP_011510032.1:p.Ala23219=
XM_011511731.1:c.69516C>T (TTN)	XP_011510033.1:p.Ala23172=
XM_017004819.1:c.95559C>T (TTN)	XP_016860308.1:p.Ala31853=
XM_017004820.1:c.90957C>T (TTN)	XP_016860309.1:p.Ala30319=
XM_017004821.1:c.90954C>T (TTN)	XP_016860310.1:p.Ala30318=
XM_017004822.1:c.87996C>T (TTN)	XP_016860311.1:p.Ala29332=
XM_017004823.1:c.69612C>T (TTN)	XP_016860312.1:p.Ala23204=
XM_024453094.1:c.91107C>T (TTN)	XP_024308862.1:p.Ala30369=
XM_024453095.1:c.91104C>T (TTN)	XP_024308863.1:p.Ala30368=
XM_024453096.1:c.90537C>T (TTN)	XP_024308864.1:p.Ala30179=
XM_024453097.1:c.87879C>T (TTN)	XP_024308865.1:p.Ala29293=
XM_024453098.1:c.87798C>T (TTN)	XP_024308866.1:p.Ala29266=
XM_024453099.1:c.69561C>T (TTN)	XP_024308867.1:p.Ala23187=
XM_024453100.1:c.59415C>T (TTN)	XP_024308868.1:p.Ala19805=