Canonical Allele Identifier: CA349495500

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179414488T>G (hg19) ; chr2:g.178549761T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549761T>G , CM000664.2:g.178549761T>G	GRCh38
NC_000002.11:g.179414488T>G , CM000664.1:g.179414488T>G	GRCh37
NC_000002.10:g.179122734T>G	NCBI36
NG_011618.3:g.286042A>C , LRG_391:g.286042A>C
NG_051363.1:g.31935T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.84257A>C (TTN)	ENSP00000343764.6:p.His28086Pro
ENST00000342175.11:c.65342A>C (TTN)	ENSP00000340554.6:p.His21781Pro
ENST00000359218.10:c.65141A>C (TTN)	ENSP00000352154.5:p.His21714Pro
ENST00000342175.10:c.65342A>C (TTN)	ENSP00000340554.6:p.His21781Pro
ENST00000342992.10:c.84257A>C (TTN)	ENSP00000343764.6:p.His28086Pro
ENST00000359218.9:c.65141A>C (TTN)	ENSP00000352154.5:p.His21714Pro
ENST00000460472.6:c.64766A>C (TTN)	ENSP00000434586.1:p.His21589Pro
ENST00000589042.5:c.91961A>C (TTN) MANE Select	ENSP00000467141.1:p.His30654Pro
ENST00000591111.5:c.87038A>C (TTN)	ENSP00000465570.1:p.His29013Pro
ENST00000615779.4:c.87038A>C (TTN)	ENSP00000483597.1:p.His29013Pro
NM_001256850.1:c.87038A>C (TTN)	NP_001243779.1:p.His29013Pro
NM_001267550.2:c.91961A>C (TTN) MANE Select	NP_001254479.2:p.His30654Pro
NM_003319.4:c.64766A>C (TTN)	NP_003310.4:p.His21589Pro
NM_133378.4:c.84257A>C (TTN)	NP_596869.4:p.His28086Pro
NM_133432.3:c.65141A>C (TTN)	NP_597676.3:p.His21714Pro
NM_133437.4:c.65342A>C (TTN)	NP_597681.4:p.His21781Pro
NR_038271.1:n.447-21539T>G (TTN-AS1)
NR_038272.1:n.2043+7400T>G (TTN-AS1)
XM_011511729.1:c.91058A>C (TTN)	XP_011510031.1:p.His30353Pro
XM_011511730.1:c.64952A>C (TTN)	XP_011510032.1:p.His21651Pro
XM_011511731.1:c.64811A>C (TTN)	XP_011510033.1:p.His21604Pro
XM_017004819.1:c.90854A>C (TTN)	XP_016860308.1:p.His30285Pro
XM_017004820.1:c.86252A>C (TTN)	XP_016860309.1:p.His28751Pro
XM_017004821.1:c.86249A>C (TTN)	XP_016860310.1:p.His28750Pro
XM_017004822.1:c.83291A>C (TTN)	XP_016860311.1:p.His27764Pro
XM_017004823.1:c.64907A>C (TTN)	XP_016860312.1:p.His21636Pro
XM_024453094.1:c.86402A>C (TTN)	XP_024308862.1:p.His28801Pro
XM_024453095.1:c.86399A>C (TTN)	XP_024308863.1:p.His28800Pro
XM_024453096.1:c.85832A>C (TTN)	XP_024308864.1:p.His28611Pro
XM_024453097.1:c.83174A>C (TTN)	XP_024308865.1:p.His27725Pro
XM_024453098.1:c.83093A>C (TTN)	XP_024308866.1:p.His27698Pro
XM_024453099.1:c.64856A>C (TTN)	XP_024308867.1:p.His21619Pro
XM_024453100.1:c.54710A>C (TTN)	XP_024308868.1:p.His18237Pro