Canonical Allele Identifier: CA349446235

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178543324-A-T
• MyVariant Identifiers: chr2:g.179408051A>T (hg19) ; chr2:g.178543324A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543324A>T , CM000664.2:g.178543324A>T	GRCh38
NC_000002.11:g.179408051A>T , CM000664.1:g.179408051A>T	GRCh37
NC_000002.10:g.179116297A>T	NCBI36
NG_011618.3:g.292479T>A , LRG_391:g.292479T>A
NG_051363.1:g.25498A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88945T>A (TTN)	ENSP00000343764.6:p.Ser29649Thr
ENST00000342175.11:c.70030T>A (TTN)	ENSP00000340554.6:p.Ser23344Thr
ENST00000359218.10:c.69829T>A (TTN)	ENSP00000352154.5:p.Ser23277Thr
ENST00000342175.10:c.70030T>A (TTN)	ENSP00000340554.6:p.Ser23344Thr
ENST00000342992.10:c.88945T>A (TTN)	ENSP00000343764.6:p.Ser29649Thr
ENST00000359218.9:c.69829T>A (TTN)	ENSP00000352154.5:p.Ser23277Thr
ENST00000460472.6:c.69454T>A (TTN)	ENSP00000434586.1:p.Ser23152Thr
ENST00000589042.5:c.96649T>A (TTN) MANE Select	ENSP00000467141.1:p.Ser32217Thr
ENST00000591111.5:c.91726T>A (TTN)	ENSP00000465570.1:p.Ser30576Thr
ENST00000615779.4:c.91726T>A (TTN)	ENSP00000483597.1:p.Ser30576Thr
NM_001256850.1:c.91726T>A (TTN)	NP_001243779.1:p.Ser30576Thr
NM_001267550.2:c.96649T>A (TTN) MANE Select	NP_001254479.2:p.Ser32217Thr
NM_003319.4:c.69454T>A (TTN)	NP_003310.4:p.Ser23152Thr
NM_133378.4:c.88945T>A (TTN)	NP_596869.4:p.Ser29649Thr
NM_133432.3:c.69829T>A (TTN)	NP_597676.3:p.Ser23277Thr
NM_133437.4:c.70030T>A (TTN)	NP_597681.4:p.Ser23344Thr
NR_038271.1:n.446+19688A>T (TTN-AS1)
NR_038272.1:n.2043+963A>T (TTN-AS1)
XM_011511729.1:c.95746T>A (TTN)	XP_011510031.1:p.Ser31916Thr
XM_011511730.1:c.69640T>A (TTN)	XP_011510032.1:p.Ser23214Thr
XM_011511731.1:c.69499T>A (TTN)	XP_011510033.1:p.Ser23167Thr
XM_017004819.1:c.95542T>A (TTN)	XP_016860308.1:p.Ser31848Thr
XM_017004820.1:c.90940T>A (TTN)	XP_016860309.1:p.Ser30314Thr
XM_017004821.1:c.90937T>A (TTN)	XP_016860310.1:p.Ser30313Thr
XM_017004822.1:c.87979T>A (TTN)	XP_016860311.1:p.Ser29327Thr
XM_017004823.1:c.69595T>A (TTN)	XP_016860312.1:p.Ser23199Thr
XM_024453094.1:c.91090T>A (TTN)	XP_024308862.1:p.Ser30364Thr
XM_024453095.1:c.91087T>A (TTN)	XP_024308863.1:p.Ser30363Thr
XM_024453096.1:c.90520T>A (TTN)	XP_024308864.1:p.Ser30174Thr
XM_024453097.1:c.87862T>A (TTN)	XP_024308865.1:p.Ser29288Thr
XM_024453098.1:c.87781T>A (TTN)	XP_024308866.1:p.Ser29261Thr
XM_024453099.1:c.69544T>A (TTN)	XP_024308867.1:p.Ser23182Thr
XM_024453100.1:c.59398T>A (TTN)	XP_024308868.1:p.Ser19800Thr