Canonical Allele Identifier: CA349645224

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179494989T>A (hg19) ; chr2:g.178630262T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630262T>A , CM000664.2:g.178630262T>A	GRCh38
NC_000002.11:g.179494989T>A , CM000664.1:g.179494989T>A	GRCh37
NC_000002.10:g.179203234T>A	NCBI36
NG_011618.3:g.205541A>T , LRG_391:g.205541A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36556A>T	ENSP00000343764.6:p.Ser12186Cys
ENST00000342175.11:c.17641A>T	ENSP00000340554.6:p.Ser5881Cys
ENST00000359218.10:c.17440A>T	ENSP00000352154.5:p.Ser5814Cys
ENST00000342175.10:c.17641A>T	ENSP00000340554.6:p.Ser5881Cys
ENST00000342992.10:c.36556A>T	ENSP00000343764.6:p.Ser12186Cys
ENST00000359218.9:c.17440A>T	ENSP00000352154.5:p.Ser5814Cys
ENST00000460472.6:c.17065A>T	ENSP00000434586.1:p.Ser5689Cys
ENST00000589042.5:c.44260A>T MANE Select	ENSP00000467141.1:p.Ser14754Cys
ENST00000591111.5:c.39337A>T	ENSP00000465570.1:p.Ser13113Cys
ENST00000615779.4:c.39337A>T	ENSP00000483597.1:p.Ser13113Cys
NM_001256850.1:c.39337A>T	NP_001243779.1:p.Ser13113Cys
NM_001267550.2:c.44260A>T MANE Select	NP_001254479.2:p.Ser14754Cys
NM_003319.4:c.17065A>T	NP_003310.4:p.Ser5689Cys
NM_133378.4:c.36556A>T	NP_596869.4:p.Ser12186Cys
NM_133432.3:c.17440A>T	NP_597676.3:p.Ser5814Cys
NM_133437.4:c.17641A>T	NP_597681.4:p.Ser5881Cys
XM_011511729.1:c.43357A>T	XP_011510031.1:p.Ser14453Cys
XM_011511730.1:c.17251A>T	XP_011510032.1:p.Ser5751Cys
XM_011511731.1:c.17110A>T	XP_011510033.1:p.Ser5704Cys
XM_017004819.1:c.43153A>T	XP_016860308.1:p.Ser14385Cys
XM_017004820.1:c.38551A>T	XP_016860309.1:p.Ser12851Cys
XM_017004821.1:c.38548A>T	XP_016860310.1:p.Ser12850Cys
XM_017004822.1:c.35590A>T	XP_016860311.1:p.Ser11864Cys
XM_017004823.1:c.17206A>T	XP_016860312.1:p.Ser5736Cys
XM_024453094.1:c.38701A>T	XP_024308862.1:p.Ser12901Cys
XM_024453095.1:c.38698A>T	XP_024308863.1:p.Ser12900Cys
XM_024453096.1:c.38131A>T	XP_024308864.1:p.Ser12711Cys
XM_024453097.1:c.35473A>T	XP_024308865.1:p.Ser11825Cys
XM_024453098.1:c.35392A>T	XP_024308866.1:p.Ser11798Cys
XM_024453099.1:c.17155A>T	XP_024308867.1:p.Ser5719Cys
XM_024453100.1:c.7009A>T	XP_024308868.1:p.Ser2337Cys