Canonical Allele Identifier: CA349496623

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457786G>T (hg19) ; chr2:g.178593059G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593059G>T , CM000664.2:g.178593059G>T	GRCh38
NC_000002.11:g.179457786G>T , CM000664.1:g.179457786G>T	GRCh37
NC_000002.10:g.179166032G>T	NCBI36
NG_011618.3:g.242744C>A , LRG_391:g.242744C>A
NG_051363.1:g.75233G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51356C>A (TTN)	ENSP00000343764.6:p.Pro17119His
ENST00000342175.11:c.32441C>A (TTN)	ENSP00000340554.6:p.Pro10814His
ENST00000359218.10:c.32240C>A (TTN)	ENSP00000352154.5:p.Pro10747His
ENST00000342175.10:c.32441C>A (TTN)	ENSP00000340554.6:p.Pro10814His
ENST00000342992.10:c.51356C>A (TTN)	ENSP00000343764.6:p.Pro17119His
ENST00000359218.9:c.32240C>A (TTN)	ENSP00000352154.5:p.Pro10747His
ENST00000460472.6:c.31865C>A (TTN)	ENSP00000434586.1:p.Pro10622His
ENST00000589042.5:c.59060C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro19687His
ENST00000591111.5:c.54137C>A (TTN)	ENSP00000465570.1:p.Pro18046His
ENST00000615779.4:c.54137C>A (TTN)	ENSP00000483597.1:p.Pro18046His
NM_001256850.1:c.54137C>A (TTN)	NP_001243779.1:p.Pro18046His
NM_001267550.2:c.59060C>A (TTN) MANE Select	NP_001254479.2:p.Pro19687His
NM_003319.4:c.31865C>A (TTN)	NP_003310.4:p.Pro10622His
NM_133378.4:c.51356C>A (TTN)	NP_596869.4:p.Pro17119His
NM_133432.3:c.32240C>A (TTN)	NP_597676.3:p.Pro10747His
NM_133437.4:c.32441C>A (TTN)	NP_597681.4:p.Pro10814His
NR_038271.1:n.597-4537G>T (TTN-AS1)
NR_038272.1:n.3364+1745G>T (TTN-AS1)
XM_011511729.1:c.58157C>A (TTN)	XP_011510031.1:p.Pro19386His
XM_011511730.1:c.32051C>A (TTN)	XP_011510032.1:p.Pro10684His
XM_011511731.1:c.31910C>A (TTN)	XP_011510033.1:p.Pro10637His
XM_017004819.1:c.57953C>A (TTN)	XP_016860308.1:p.Pro19318His
XM_017004820.1:c.53351C>A (TTN)	XP_016860309.1:p.Pro17784His
XM_017004821.1:c.53348C>A (TTN)	XP_016860310.1:p.Pro17783His
XM_017004822.1:c.50390C>A (TTN)	XP_016860311.1:p.Pro16797His
XM_017004823.1:c.32006C>A (TTN)	XP_016860312.1:p.Pro10669His
XM_024453094.1:c.53501C>A (TTN)	XP_024308862.1:p.Pro17834His
XM_024453095.1:c.53498C>A (TTN)	XP_024308863.1:p.Pro17833His
XM_024453096.1:c.52931C>A (TTN)	XP_024308864.1:p.Pro17644His
XM_024453097.1:c.50273C>A (TTN)	XP_024308865.1:p.Pro16758His
XM_024453098.1:c.50192C>A (TTN)	XP_024308866.1:p.Pro16731His
XM_024453099.1:c.31955C>A (TTN)	XP_024308867.1:p.Pro10652His
XM_024453100.1:c.21809C>A (TTN)	XP_024308868.1:p.Pro7270His