Canonical Allele Identifier: CA349456637

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409091C>A (hg19) ; chr2:g.178544364C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544364C>A , CM000664.2:g.178544364C>A	GRCh38
NC_000002.11:g.179409091C>A , CM000664.1:g.179409091C>A	GRCh37
NC_000002.10:g.179117337C>A	NCBI36
NG_011618.3:g.291439G>T , LRG_391:g.291439G>T
NG_051363.1:g.26538C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88161G>T (TTN)	ENSP00000343764.6:p.Gln29387His
ENST00000342175.11:c.69246G>T (TTN)	ENSP00000340554.6:p.Gln23082His
ENST00000359218.10:c.69045G>T (TTN)	ENSP00000352154.5:p.Gln23015His
ENST00000342175.10:c.69246G>T (TTN)	ENSP00000340554.6:p.Gln23082His
ENST00000342992.10:c.88161G>T (TTN)	ENSP00000343764.6:p.Gln29387His
ENST00000359218.9:c.69045G>T (TTN)	ENSP00000352154.5:p.Gln23015His
ENST00000460472.6:c.68670G>T (TTN)	ENSP00000434586.1:p.Gln22890His
ENST00000589042.5:c.95865G>T (TTN) MANE Select	ENSP00000467141.1:p.Gln31955His
ENST00000591111.5:c.90942G>T (TTN)	ENSP00000465570.1:p.Gln30314His
ENST00000615779.4:c.90942G>T (TTN)	ENSP00000483597.1:p.Gln30314His
NM_001256850.1:c.90942G>T (TTN)	NP_001243779.1:p.Gln30314His
NM_001267550.2:c.95865G>T (TTN) MANE Select	NP_001254479.2:p.Gln31955His
NM_003319.4:c.68670G>T (TTN)	NP_003310.4:p.Gln22890His
NM_133378.4:c.88161G>T (TTN)	NP_596869.4:p.Gln29387His
NM_133432.3:c.69045G>T (TTN)	NP_597676.3:p.Gln23015His
NM_133437.4:c.69246G>T (TTN)	NP_597681.4:p.Gln23082His
NR_038271.1:n.446+20728C>A (TTN-AS1)
NR_038272.1:n.2043+2003C>A (TTN-AS1)
XM_011511729.1:c.94962G>T (TTN)	XP_011510031.1:p.Gln31654His
XM_011511730.1:c.68856G>T (TTN)	XP_011510032.1:p.Gln22952His
XM_011511731.1:c.68715G>T (TTN)	XP_011510033.1:p.Gln22905His
XM_017004819.1:c.94758G>T (TTN)	XP_016860308.1:p.Gln31586His
XM_017004820.1:c.90156G>T (TTN)	XP_016860309.1:p.Gln30052His
XM_017004821.1:c.90153G>T (TTN)	XP_016860310.1:p.Gln30051His
XM_017004822.1:c.87195G>T (TTN)	XP_016860311.1:p.Gln29065His
XM_017004823.1:c.68811G>T (TTN)	XP_016860312.1:p.Gln22937His
XM_024453094.1:c.90306G>T (TTN)	XP_024308862.1:p.Gln30102His
XM_024453095.1:c.90303G>T (TTN)	XP_024308863.1:p.Gln30101His
XM_024453096.1:c.89736G>T (TTN)	XP_024308864.1:p.Gln29912His
XM_024453097.1:c.87078G>T (TTN)	XP_024308865.1:p.Gln29026His
XM_024453098.1:c.86997G>T (TTN)	XP_024308866.1:p.Gln28999His
XM_024453099.1:c.68760G>T (TTN)	XP_024308867.1:p.Gln22920His
XM_024453100.1:c.58614G>T (TTN)	XP_024308868.1:p.Gln19538His