Canonical Allele Identifier: CA349398216

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179391776T>G (hg19) ; chr2:g.178527049T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527049T>G , CM000664.2:g.178527049T>G	GRCh38
NC_000002.11:g.179391776T>G , CM000664.1:g.179391776T>G	GRCh37
NC_000002.10:g.179100022T>G	NCBI36
NG_011618.3:g.308754A>C , LRG_391:g.308754A>C
NG_051363.1:g.9223T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100235A>C (TTN)	ENSP00000343764.6:p.Asp33412Ala
ENST00000342175.11:c.81320A>C (TTN)	ENSP00000340554.6:p.Asp27107Ala
ENST00000359218.10:c.81119A>C (TTN)	ENSP00000352154.5:p.Asp27040Ala
ENST00000342175.10:c.81320A>C (TTN)	ENSP00000340554.6:p.Asp27107Ala
ENST00000342992.10:c.100235A>C (TTN)	ENSP00000343764.6:p.Asp33412Ala
ENST00000359218.9:c.81119A>C (TTN)	ENSP00000352154.5:p.Asp27040Ala
ENST00000460472.6:c.80744A>C (TTN)	ENSP00000434586.1:p.Asp26915Ala
ENST00000589042.5:c.107939A>C (TTN) MANE Select	ENSP00000467141.1:p.Asp35980Ala
ENST00000591111.5:c.103016A>C (TTN)	ENSP00000465570.1:p.Asp34339Ala
ENST00000615779.4:c.103016A>C (TTN)	ENSP00000483597.1:p.Asp34339Ala
NM_001256850.1:c.103016A>C (TTN)	NP_001243779.1:p.Asp34339Ala
NM_001267550.2:c.107939A>C (TTN) MANE Select	NP_001254479.2:p.Asp35980Ala
NM_003319.4:c.80744A>C (TTN)	NP_003310.4:p.Asp26915Ala
NM_133378.4:c.100235A>C (TTN)	NP_596869.4:p.Asp33412Ala
NM_133432.3:c.81119A>C (TTN)	NP_597676.3:p.Asp27040Ala
NM_133437.4:c.81320A>C (TTN)	NP_597681.4:p.Asp27107Ala
NR_038271.1:n.446+3413T>G (TTN-AS1)
NR_038272.1:n.219+3413T>G (TTN-AS1)
XM_011511729.1:c.107036A>C (TTN)	XP_011510031.1:p.Asp35679Ala
XM_011511730.1:c.80930A>C (TTN)	XP_011510032.1:p.Asp26977Ala
XM_011511731.1:c.80789A>C (TTN)	XP_011510033.1:p.Asp26930Ala
XM_017004819.1:c.106832A>C (TTN)	XP_016860308.1:p.Asp35611Ala
XM_017004820.1:c.102230A>C (TTN)	XP_016860309.1:p.Asp34077Ala
XM_017004821.1:c.102227A>C (TTN)	XP_016860310.1:p.Asp34076Ala
XM_017004822.1:c.99269A>C (TTN)	XP_016860311.1:p.Asp33090Ala
XM_017004823.1:c.80885A>C (TTN)	XP_016860312.1:p.Asp26962Ala
XM_024453094.1:c.102380A>C (TTN)	XP_024308862.1:p.Asp34127Ala
XM_024453095.1:c.102377A>C (TTN)	XP_024308863.1:p.Asp34126Ala
XM_024453096.1:c.101810A>C (TTN)	XP_024308864.1:p.Asp33937Ala
XM_024453097.1:c.99152A>C (TTN)	XP_024308865.1:p.Asp33051Ala
XM_024453098.1:c.99071A>C (TTN)	XP_024308866.1:p.Asp33024Ala
XM_024453099.1:c.80834A>C (TTN)	XP_024308867.1:p.Asp26945Ala
XM_024453100.1:c.70688A>C (TTN)	XP_024308868.1:p.Asp23563Ala