Canonical Allele Identifier: CA349411577

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178532127-A-T
• MyVariant Identifiers: chr2:g.179396854A>T (hg19) ; chr2:g.178532127A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532127A>T , CM000664.2:g.178532127A>T	GRCh38
NC_000002.11:g.179396854A>T , CM000664.1:g.179396854A>T	GRCh37
NC_000002.10:g.179105100A>T	NCBI36
NG_011618.3:g.303676T>A , LRG_391:g.303676T>A
NG_051363.1:g.14301A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96784T>A (TTN)	ENSP00000343764.6:p.Ser32262Thr
ENST00000342175.11:c.77869T>A (TTN)	ENSP00000340554.6:p.Ser25957Thr
ENST00000359218.10:c.77668T>A (TTN)	ENSP00000352154.5:p.Ser25890Thr
ENST00000342175.10:c.77869T>A (TTN)	ENSP00000340554.6:p.Ser25957Thr
ENST00000342992.10:c.96784T>A (TTN)	ENSP00000343764.6:p.Ser32262Thr
ENST00000359218.9:c.77668T>A (TTN)	ENSP00000352154.5:p.Ser25890Thr
ENST00000460472.6:c.77293T>A (TTN)	ENSP00000434586.1:p.Ser25765Thr
ENST00000589042.5:c.104488T>A (TTN) MANE Select	ENSP00000467141.1:p.Ser34830Thr
ENST00000591111.5:c.99565T>A (TTN)	ENSP00000465570.1:p.Ser33189Thr
ENST00000615779.4:c.99565T>A (TTN)	ENSP00000483597.1:p.Ser33189Thr
NM_001256850.1:c.99565T>A (TTN)	NP_001243779.1:p.Ser33189Thr
NM_001267550.2:c.104488T>A (TTN) MANE Select	NP_001254479.2:p.Ser34830Thr
NM_003319.4:c.77293T>A (TTN)	NP_003310.4:p.Ser25765Thr
NM_133378.4:c.96784T>A (TTN)	NP_596869.4:p.Ser32262Thr
NM_133432.3:c.77668T>A (TTN)	NP_597676.3:p.Ser25890Thr
NM_133437.4:c.77869T>A (TTN)	NP_597681.4:p.Ser25957Thr
NR_038271.1:n.446+8491A>T (TTN-AS1)
NR_038272.1:n.220-3605A>T (TTN-AS1)
XM_011511729.1:c.103585T>A (TTN)	XP_011510031.1:p.Ser34529Thr
XM_011511730.1:c.77479T>A (TTN)	XP_011510032.1:p.Ser25827Thr
XM_011511731.1:c.77338T>A (TTN)	XP_011510033.1:p.Ser25780Thr
XM_017004819.1:c.103381T>A (TTN)	XP_016860308.1:p.Ser34461Thr
XM_017004820.1:c.98779T>A (TTN)	XP_016860309.1:p.Ser32927Thr
XM_017004821.1:c.98776T>A (TTN)	XP_016860310.1:p.Ser32926Thr
XM_017004822.1:c.95818T>A (TTN)	XP_016860311.1:p.Ser31940Thr
XM_017004823.1:c.77434T>A (TTN)	XP_016860312.1:p.Ser25812Thr
XM_024453094.1:c.98929T>A (TTN)	XP_024308862.1:p.Ser32977Thr
XM_024453095.1:c.98926T>A (TTN)	XP_024308863.1:p.Ser32976Thr
XM_024453096.1:c.98359T>A (TTN)	XP_024308864.1:p.Ser32787Thr
XM_024453097.1:c.95701T>A (TTN)	XP_024308865.1:p.Ser31901Thr
XM_024453098.1:c.95620T>A (TTN)	XP_024308866.1:p.Ser31874Thr
XM_024453099.1:c.77383T>A (TTN)	XP_024308867.1:p.Ser25795Thr
XM_024453100.1:c.67237T>A (TTN)	XP_024308868.1:p.Ser22413Thr