Canonical Allele Identifier: CA349427120

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179401900C>A (hg19) ; chr2:g.178537173C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537173C>A , CM000664.2:g.178537173C>A	GRCh38
NC_000002.11:g.179401900C>A , CM000664.1:g.179401900C>A	GRCh37
NC_000002.10:g.179110146C>A	NCBI36
NG_011618.3:g.298630G>T , LRG_391:g.298630G>T
NG_051363.1:g.19347C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92232G>T (TTN)	ENSP00000343764.6:p.Trp30744Cys
ENST00000342175.11:c.73317G>T (TTN)	ENSP00000340554.6:p.Trp24439Cys
ENST00000359218.10:c.73116G>T (TTN)	ENSP00000352154.5:p.Trp24372Cys
ENST00000342175.10:c.73317G>T (TTN)	ENSP00000340554.6:p.Trp24439Cys
ENST00000342992.10:c.92232G>T (TTN)	ENSP00000343764.6:p.Trp30744Cys
ENST00000359218.9:c.73116G>T (TTN)	ENSP00000352154.5:p.Trp24372Cys
ENST00000460472.6:c.72741G>T (TTN)	ENSP00000434586.1:p.Trp24247Cys
ENST00000589042.5:c.99936G>T (TTN) MANE Select	ENSP00000467141.1:p.Trp33312Cys
ENST00000591111.5:c.95013G>T (TTN)	ENSP00000465570.1:p.Trp31671Cys
ENST00000615779.4:c.95013G>T (TTN)	ENSP00000483597.1:p.Trp31671Cys
NM_001256850.1:c.95013G>T (TTN)	NP_001243779.1:p.Trp31671Cys
NM_001267550.2:c.99936G>T (TTN) MANE Select	NP_001254479.2:p.Trp33312Cys
NM_003319.4:c.72741G>T (TTN)	NP_003310.4:p.Trp24247Cys
NM_133378.4:c.92232G>T (TTN)	NP_596869.4:p.Trp30744Cys
NM_133432.3:c.73116G>T (TTN)	NP_597676.3:p.Trp24372Cys
NM_133437.4:c.73317G>T (TTN)	NP_597681.4:p.Trp24439Cys
NR_038271.1:n.446+13537C>A (TTN-AS1)
NR_038272.1:n.317-188C>A (TTN-AS1)
XM_011511729.1:c.99033G>T (TTN)	XP_011510031.1:p.Trp33011Cys
XM_011511730.1:c.72927G>T (TTN)	XP_011510032.1:p.Trp24309Cys
XM_011511731.1:c.72786G>T (TTN)	XP_011510033.1:p.Trp24262Cys
XM_017004819.1:c.98829G>T (TTN)	XP_016860308.1:p.Trp32943Cys
XM_017004820.1:c.94227G>T (TTN)	XP_016860309.1:p.Trp31409Cys
XM_017004821.1:c.94224G>T (TTN)	XP_016860310.1:p.Trp31408Cys
XM_017004822.1:c.91266G>T (TTN)	XP_016860311.1:p.Trp30422Cys
XM_017004823.1:c.72882G>T (TTN)	XP_016860312.1:p.Trp24294Cys
XM_024453094.1:c.94377G>T (TTN)	XP_024308862.1:p.Trp31459Cys
XM_024453095.1:c.94374G>T (TTN)	XP_024308863.1:p.Trp31458Cys
XM_024453096.1:c.93807G>T (TTN)	XP_024308864.1:p.Trp31269Cys
XM_024453097.1:c.91149G>T (TTN)	XP_024308865.1:p.Trp30383Cys
XM_024453098.1:c.91068G>T (TTN)	XP_024308866.1:p.Trp30356Cys
XM_024453099.1:c.72831G>T (TTN)	XP_024308867.1:p.Trp24277Cys
XM_024453100.1:c.62685G>T (TTN)	XP_024308868.1:p.Trp20895Cys