Canonical Allele Identifier: CA349511904

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179417308T>G (hg19) ; chr2:g.178552581T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552581T>G , CM000664.2:g.178552581T>G	GRCh38
NC_000002.11:g.179417308T>G , CM000664.1:g.179417308T>G	GRCh37
NC_000002.10:g.179125554T>G	NCBI36
NG_011618.3:g.283222A>C , LRG_391:g.283222A>C
NG_051363.1:g.34755T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82615A>C (TTN)	ENSP00000343764.6:p.Asn27539His
ENST00000342175.11:c.63700A>C (TTN)	ENSP00000340554.6:p.Asn21234His
ENST00000359218.10:c.63499A>C (TTN)	ENSP00000352154.5:p.Asn21167His
ENST00000342175.10:c.63700A>C (TTN)	ENSP00000340554.6:p.Asn21234His
ENST00000342992.10:c.82615A>C (TTN)	ENSP00000343764.6:p.Asn27539His
ENST00000359218.9:c.63499A>C (TTN)	ENSP00000352154.5:p.Asn21167His
ENST00000460472.6:c.63124A>C (TTN)	ENSP00000434586.1:p.Asn21042His
ENST00000589042.5:c.90319A>C (TTN) MANE Select	ENSP00000467141.1:p.Asn30107His
ENST00000591111.5:c.85396A>C (TTN)	ENSP00000465570.1:p.Asn28466His
ENST00000615779.4:c.85396A>C (TTN)	ENSP00000483597.1:p.Asn28466His
NM_001256850.1:c.85396A>C (TTN)	NP_001243779.1:p.Asn28466His
NM_001267550.2:c.90319A>C (TTN) MANE Select	NP_001254479.2:p.Asn30107His
NM_003319.4:c.63124A>C (TTN)	NP_003310.4:p.Asn21042His
NM_133378.4:c.82615A>C (TTN)	NP_596869.4:p.Asn27539His
NM_133432.3:c.63499A>C (TTN)	NP_597676.3:p.Asn21167His
NM_133437.4:c.63700A>C (TTN)	NP_597681.4:p.Asn21234His
NR_038271.1:n.447-18719T>G (TTN-AS1)
NR_038272.1:n.2043+10220T>G (TTN-AS1)
XM_011511729.1:c.89416A>C (TTN)	XP_011510031.1:p.Asn29806His
XM_011511730.1:c.63310A>C (TTN)	XP_011510032.1:p.Asn21104His
XM_011511731.1:c.63169A>C (TTN)	XP_011510033.1:p.Asn21057His
XM_017004819.1:c.89212A>C (TTN)	XP_016860308.1:p.Asn29738His
XM_017004820.1:c.84610A>C (TTN)	XP_016860309.1:p.Asn28204His
XM_017004821.1:c.84607A>C (TTN)	XP_016860310.1:p.Asn28203His
XM_017004822.1:c.81649A>C (TTN)	XP_016860311.1:p.Asn27217His
XM_017004823.1:c.63265A>C (TTN)	XP_016860312.1:p.Asn21089His
XM_024453094.1:c.84760A>C (TTN)	XP_024308862.1:p.Asn28254His
XM_024453095.1:c.84757A>C (TTN)	XP_024308863.1:p.Asn28253His
XM_024453096.1:c.84190A>C (TTN)	XP_024308864.1:p.Asn28064His
XM_024453097.1:c.81532A>C (TTN)	XP_024308865.1:p.Asn27178His
XM_024453098.1:c.81451A>C (TTN)	XP_024308866.1:p.Asn27151His
XM_024453099.1:c.63214A>C (TTN)	XP_024308867.1:p.Asn21072His
XM_024453100.1:c.53068A>C (TTN)	XP_024308868.1:p.Asn17690His