Canonical Allele Identifier: CA349406476

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395104G>T (hg19) ; chr2:g.178530377G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530377G>T , CM000664.2:g.178530377G>T	GRCh38
NC_000002.11:g.179395104G>T , CM000664.1:g.179395104G>T	GRCh37
NC_000002.10:g.179103350G>T	NCBI36
NG_011618.3:g.305426C>A , LRG_391:g.305426C>A
NG_051363.1:g.12551G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98534C>A (TTN)	ENSP00000343764.6:p.Pro32845His
ENST00000342175.11:c.79619C>A (TTN)	ENSP00000340554.6:p.Pro26540His
ENST00000359218.10:c.79418C>A (TTN)	ENSP00000352154.5:p.Pro26473His
ENST00000342175.10:c.79619C>A (TTN)	ENSP00000340554.6:p.Pro26540His
ENST00000342992.10:c.98534C>A (TTN)	ENSP00000343764.6:p.Pro32845His
ENST00000359218.9:c.79418C>A (TTN)	ENSP00000352154.5:p.Pro26473His
ENST00000460472.6:c.79043C>A (TTN)	ENSP00000434586.1:p.Pro26348His
ENST00000589042.5:c.106238C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro35413His
ENST00000591111.5:c.101315C>A (TTN)	ENSP00000465570.1:p.Pro33772His
ENST00000615779.4:c.101315C>A (TTN)	ENSP00000483597.1:p.Pro33772His
NM_001256850.1:c.101315C>A (TTN)	NP_001243779.1:p.Pro33772His
NM_001267550.2:c.106238C>A (TTN) MANE Select	NP_001254479.2:p.Pro35413His
NM_003319.4:c.79043C>A (TTN)	NP_003310.4:p.Pro26348His
NM_133378.4:c.98534C>A (TTN)	NP_596869.4:p.Pro32845His
NM_133432.3:c.79418C>A (TTN)	NP_597676.3:p.Pro26473His
NM_133437.4:c.79619C>A (TTN)	NP_597681.4:p.Pro26540His
NR_038271.1:n.446+6741G>T (TTN-AS1)
NR_038272.1:n.220-5355G>T (TTN-AS1)
XM_011511729.1:c.105335C>A (TTN)	XP_011510031.1:p.Pro35112His
XM_011511730.1:c.79229C>A (TTN)	XP_011510032.1:p.Pro26410His
XM_011511731.1:c.79088C>A (TTN)	XP_011510033.1:p.Pro26363His
XM_017004819.1:c.105131C>A (TTN)	XP_016860308.1:p.Pro35044His
XM_017004820.1:c.100529C>A (TTN)	XP_016860309.1:p.Pro33510His
XM_017004821.1:c.100526C>A (TTN)	XP_016860310.1:p.Pro33509His
XM_017004822.1:c.97568C>A (TTN)	XP_016860311.1:p.Pro32523His
XM_017004823.1:c.79184C>A (TTN)	XP_016860312.1:p.Pro26395His
XM_024453094.1:c.100679C>A (TTN)	XP_024308862.1:p.Pro33560His
XM_024453095.1:c.100676C>A (TTN)	XP_024308863.1:p.Pro33559His
XM_024453096.1:c.100109C>A (TTN)	XP_024308864.1:p.Pro33370His
XM_024453097.1:c.97451C>A (TTN)	XP_024308865.1:p.Pro32484His
XM_024453098.1:c.97370C>A (TTN)	XP_024308866.1:p.Pro32457His
XM_024453099.1:c.79133C>A (TTN)	XP_024308867.1:p.Pro26378His
XM_024453100.1:c.68987C>A (TTN)	XP_024308868.1:p.Pro22996His