Canonical Allele Identifier: CA349411011

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2949804
• ClinVar RCV Id: RCV003804970
• gnomAD v4: 2-178531868-G-A
• MyVariant Identifiers: chr2:g.179396595G>A (hg19) ; chr2:g.178531868G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178531868G>A , CM000664.2:g.178531868G>A	GRCh38
NC_000002.11:g.179396595G>A , CM000664.1:g.179396595G>A	GRCh37
NC_000002.10:g.179104841G>A	NCBI36
NG_011618.3:g.303935C>T , LRG_391:g.303935C>T
NG_051363.1:g.14042G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.97043C>T (TTN)	ENSP00000343764.6:p.Ala32348Val
ENST00000342175.11:c.78128C>T (TTN)	ENSP00000340554.6:p.Ala26043Val
ENST00000359218.10:c.77927C>T (TTN)	ENSP00000352154.5:p.Ala25976Val
ENST00000342175.10:c.78128C>T (TTN)	ENSP00000340554.6:p.Ala26043Val
ENST00000342992.10:c.97043C>T (TTN)	ENSP00000343764.6:p.Ala32348Val
ENST00000359218.9:c.77927C>T (TTN)	ENSP00000352154.5:p.Ala25976Val
ENST00000460472.6:c.77552C>T (TTN)	ENSP00000434586.1:p.Ala25851Val
ENST00000589042.5:c.104747C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala34916Val
ENST00000591111.5:c.99824C>T (TTN)	ENSP00000465570.1:p.Ala33275Val
ENST00000615779.4:c.99824C>T (TTN)	ENSP00000483597.1:p.Ala33275Val
NM_001256850.1:c.99824C>T (TTN)	NP_001243779.1:p.Ala33275Val
NM_001267550.2:c.104747C>T (TTN) MANE Select	NP_001254479.2:p.Ala34916Val
NM_003319.4:c.77552C>T (TTN)	NP_003310.4:p.Ala25851Val
NM_133378.4:c.97043C>T (TTN)	NP_596869.4:p.Ala32348Val
NM_133432.3:c.77927C>T (TTN)	NP_597676.3:p.Ala25976Val
NM_133437.4:c.78128C>T (TTN)	NP_597681.4:p.Ala26043Val
NR_038271.1:n.446+8232G>A (TTN-AS1)
NR_038272.1:n.220-3864G>A (TTN-AS1)
XM_011511729.1:c.103844C>T (TTN)	XP_011510031.1:p.Ala34615Val
XM_011511730.1:c.77738C>T (TTN)	XP_011510032.1:p.Ala25913Val
XM_011511731.1:c.77597C>T (TTN)	XP_011510033.1:p.Ala25866Val
XM_017004819.1:c.103640C>T (TTN)	XP_016860308.1:p.Ala34547Val
XM_017004820.1:c.99038C>T (TTN)	XP_016860309.1:p.Ala33013Val
XM_017004821.1:c.99035C>T (TTN)	XP_016860310.1:p.Ala33012Val
XM_017004822.1:c.96077C>T (TTN)	XP_016860311.1:p.Ala32026Val
XM_017004823.1:c.77693C>T (TTN)	XP_016860312.1:p.Ala25898Val
XM_024453094.1:c.99188C>T (TTN)	XP_024308862.1:p.Ala33063Val
XM_024453095.1:c.99185C>T (TTN)	XP_024308863.1:p.Ala33062Val
XM_024453096.1:c.98618C>T (TTN)	XP_024308864.1:p.Ala32873Val
XM_024453097.1:c.95960C>T (TTN)	XP_024308865.1:p.Ala31987Val
XM_024453098.1:c.95879C>T (TTN)	XP_024308866.1:p.Ala31960Val
XM_024453099.1:c.77642C>T (TTN)	XP_024308867.1:p.Ala25881Val
XM_024453100.1:c.67496C>T (TTN)	XP_024308868.1:p.Ala22499Val