Canonical Allele Identifier: CA349489093

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179413388T>G (hg19) ; chr2:g.178548661T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178548661T>G , CM000664.2:g.178548661T>G	GRCh38
NC_000002.11:g.179413388T>G , CM000664.1:g.179413388T>G	GRCh37
NC_000002.10:g.179121634T>G	NCBI36
NG_011618.3:g.287142A>C , LRG_391:g.287142A>C
NG_051363.1:g.30835T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.85261A>C (TTN)	ENSP00000343764.6:p.Asn28421His
ENST00000342175.11:c.66346A>C (TTN)	ENSP00000340554.6:p.Asn22116His
ENST00000359218.10:c.66145A>C (TTN)	ENSP00000352154.5:p.Asn22049His
ENST00000342175.10:c.66346A>C (TTN)	ENSP00000340554.6:p.Asn22116His
ENST00000342992.10:c.85261A>C (TTN)	ENSP00000343764.6:p.Asn28421His
ENST00000359218.9:c.66145A>C (TTN)	ENSP00000352154.5:p.Asn22049His
ENST00000460472.6:c.65770A>C (TTN)	ENSP00000434586.1:p.Asn21924His
ENST00000589042.5:c.92965A>C (TTN) MANE Select	ENSP00000467141.1:p.Asn30989His
ENST00000591111.5:c.88042A>C (TTN)	ENSP00000465570.1:p.Asn29348His
ENST00000615779.4:c.88042A>C (TTN)	ENSP00000483597.1:p.Asn29348His
NM_001256850.1:c.88042A>C (TTN)	NP_001243779.1:p.Asn29348His
NM_001267550.2:c.92965A>C (TTN) MANE Select	NP_001254479.2:p.Asn30989His
NM_003319.4:c.65770A>C (TTN)	NP_003310.4:p.Asn21924His
NM_133378.4:c.85261A>C (TTN)	NP_596869.4:p.Asn28421His
NM_133432.3:c.66145A>C (TTN)	NP_597676.3:p.Asn22049His
NM_133437.4:c.66346A>C (TTN)	NP_597681.4:p.Asn22116His
NR_038271.1:n.447-22639T>G (TTN-AS1)
NR_038272.1:n.2043+6300T>G (TTN-AS1)
XM_011511729.1:c.92062A>C (TTN)	XP_011510031.1:p.Asn30688His
XM_011511730.1:c.65956A>C (TTN)	XP_011510032.1:p.Asn21986His
XM_011511731.1:c.65815A>C (TTN)	XP_011510033.1:p.Asn21939His
XM_017004819.1:c.91858A>C (TTN)	XP_016860308.1:p.Asn30620His
XM_017004820.1:c.87256A>C (TTN)	XP_016860309.1:p.Asn29086His
XM_017004821.1:c.87253A>C (TTN)	XP_016860310.1:p.Asn29085His
XM_017004822.1:c.84295A>C (TTN)	XP_016860311.1:p.Asn28099His
XM_017004823.1:c.65911A>C (TTN)	XP_016860312.1:p.Asn21971His
XM_024453094.1:c.87406A>C (TTN)	XP_024308862.1:p.Asn29136His
XM_024453095.1:c.87403A>C (TTN)	XP_024308863.1:p.Asn29135His
XM_024453096.1:c.86836A>C (TTN)	XP_024308864.1:p.Asn28946His
XM_024453097.1:c.84178A>C (TTN)	XP_024308865.1:p.Asn28060His
XM_024453098.1:c.84097A>C (TTN)	XP_024308866.1:p.Asn28033His
XM_024453099.1:c.65860A>C (TTN)	XP_024308867.1:p.Asn21954His
XM_024453100.1:c.55714A>C (TTN)	XP_024308868.1:p.Asn18572His