Canonical Allele Identifier: CA349488516

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179456616G>T (hg19) ; chr2:g.178591889G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591889G>T , CM000664.2:g.178591889G>T	GRCh38
NC_000002.11:g.179456616G>T , CM000664.1:g.179456616G>T	GRCh37
NC_000002.10:g.179164862G>T	NCBI36
NG_011618.3:g.243914C>A , LRG_391:g.243914C>A
NG_051363.1:g.74063G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.52226C>A (TTN)	ENSP00000343764.6:p.Pro17409His
ENST00000342175.11:c.33311C>A (TTN)	ENSP00000340554.6:p.Pro11104His
ENST00000359218.10:c.33110C>A (TTN)	ENSP00000352154.5:p.Pro11037His
ENST00000342175.10:c.33311C>A (TTN)	ENSP00000340554.6:p.Pro11104His
ENST00000342992.10:c.52226C>A (TTN)	ENSP00000343764.6:p.Pro17409His
ENST00000359218.9:c.33110C>A (TTN)	ENSP00000352154.5:p.Pro11037His
ENST00000460472.6:c.32735C>A (TTN)	ENSP00000434586.1:p.Pro10912His
ENST00000589042.5:c.59930C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro19977His
ENST00000591111.5:c.55007C>A (TTN)	ENSP00000465570.1:p.Pro18336His
ENST00000615779.4:c.55007C>A (TTN)	ENSP00000483597.1:p.Pro18336His
NM_001256850.1:c.55007C>A (TTN)	NP_001243779.1:p.Pro18336His
NM_001267550.2:c.59930C>A (TTN) MANE Select	NP_001254479.2:p.Pro19977His
NM_003319.4:c.32735C>A (TTN)	NP_003310.4:p.Pro10912His
NM_133378.4:c.52226C>A (TTN)	NP_596869.4:p.Pro17409His
NM_133432.3:c.33110C>A (TTN)	NP_597676.3:p.Pro11037His
NM_133437.4:c.33311C>A (TTN)	NP_597681.4:p.Pro11104His
NR_038271.1:n.597-5707G>T (TTN-AS1)
NR_038272.1:n.3364+575G>T (TTN-AS1)
XM_011511729.1:c.59027C>A (TTN)	XP_011510031.1:p.Pro19676His
XM_011511730.1:c.32921C>A (TTN)	XP_011510032.1:p.Pro10974His
XM_011511731.1:c.32780C>A (TTN)	XP_011510033.1:p.Pro10927His
XM_017004819.1:c.58823C>A (TTN)	XP_016860308.1:p.Pro19608His
XM_017004820.1:c.54221C>A (TTN)	XP_016860309.1:p.Pro18074His
XM_017004821.1:c.54218C>A (TTN)	XP_016860310.1:p.Pro18073His
XM_017004822.1:c.51260C>A (TTN)	XP_016860311.1:p.Pro17087His
XM_017004823.1:c.32876C>A (TTN)	XP_016860312.1:p.Pro10959His
XM_024453094.1:c.54371C>A (TTN)	XP_024308862.1:p.Pro18124His
XM_024453095.1:c.54368C>A (TTN)	XP_024308863.1:p.Pro18123His
XM_024453096.1:c.53801C>A (TTN)	XP_024308864.1:p.Pro17934His
XM_024453097.1:c.51143C>A (TTN)	XP_024308865.1:p.Pro17048His
XM_024453098.1:c.51062C>A (TTN)	XP_024308866.1:p.Pro17021His
XM_024453099.1:c.32825C>A (TTN)	XP_024308867.1:p.Pro10942His
XM_024453100.1:c.22679C>A (TTN)	XP_024308868.1:p.Pro7560His