Canonical Allele Identifier: CA349620948

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435176G>T (hg19) ; chr2:g.178570449G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570449G>T , CM000664.2:g.178570449G>T	GRCh38
NC_000002.11:g.179435176G>T , CM000664.1:g.179435176G>T	GRCh37
NC_000002.10:g.179143422G>T	NCBI36
NG_011618.3:g.265354C>A , LRG_391:g.265354C>A
NG_051363.1:g.52623G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67979C>A (TTN)	ENSP00000343764.6:p.Pro22660His
ENST00000342175.11:c.49064C>A (TTN)	ENSP00000340554.6:p.Pro16355His
ENST00000359218.10:c.48863C>A (TTN)	ENSP00000352154.5:p.Pro16288His
ENST00000342175.10:c.49064C>A (TTN)	ENSP00000340554.6:p.Pro16355His
ENST00000342992.10:c.67979C>A (TTN)	ENSP00000343764.6:p.Pro22660His
ENST00000359218.9:c.48863C>A (TTN)	ENSP00000352154.5:p.Pro16288His
ENST00000460472.6:c.48488C>A (TTN)	ENSP00000434586.1:p.Pro16163His
ENST00000589042.5:c.75683C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro25228His
ENST00000591111.5:c.70760C>A (TTN)	ENSP00000465570.1:p.Pro23587His
ENST00000615779.4:c.70760C>A (TTN)	ENSP00000483597.1:p.Pro23587His
NM_001256850.1:c.70760C>A (TTN)	NP_001243779.1:p.Pro23587His
NM_001267550.2:c.75683C>A (TTN) MANE Select	NP_001254479.2:p.Pro25228His
NM_003319.4:c.48488C>A (TTN)	NP_003310.4:p.Pro16163His
NM_133378.4:c.67979C>A (TTN)	NP_596869.4:p.Pro22660His
NM_133432.3:c.48863C>A (TTN)	NP_597676.3:p.Pro16288His
NM_133437.4:c.49064C>A (TTN)	NP_597681.4:p.Pro16355His
NR_038271.1:n.447-851G>T (TTN-AS1)
NR_038272.1:n.2044-12123G>T (TTN-AS1)
XM_011511729.1:c.74780C>A (TTN)	XP_011510031.1:p.Pro24927His
XM_011511730.1:c.48674C>A (TTN)	XP_011510032.1:p.Pro16225His
XM_011511731.1:c.48533C>A (TTN)	XP_011510033.1:p.Pro16178His
XM_017004819.1:c.74576C>A (TTN)	XP_016860308.1:p.Pro24859His
XM_017004820.1:c.69974C>A (TTN)	XP_016860309.1:p.Pro23325His
XM_017004821.1:c.69971C>A (TTN)	XP_016860310.1:p.Pro23324His
XM_017004822.1:c.67013C>A (TTN)	XP_016860311.1:p.Pro22338His
XM_017004823.1:c.48629C>A (TTN)	XP_016860312.1:p.Pro16210His
XM_024453094.1:c.70124C>A (TTN)	XP_024308862.1:p.Pro23375His
XM_024453095.1:c.70121C>A (TTN)	XP_024308863.1:p.Pro23374His
XM_024453096.1:c.69554C>A (TTN)	XP_024308864.1:p.Pro23185His
XM_024453097.1:c.66896C>A (TTN)	XP_024308865.1:p.Pro22299His
XM_024453098.1:c.66815C>A (TTN)	XP_024308866.1:p.Pro22272His
XM_024453099.1:c.48578C>A (TTN)	XP_024308867.1:p.Pro16193His
XM_024453100.1:c.38432C>A (TTN)	XP_024308868.1:p.Pro12811His