Canonical Allele Identifier: CA349405813

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179394976C>G (hg19) ; chr2:g.178530249C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530249C>G , CM000664.2:g.178530249C>G	GRCh38
NC_000002.11:g.179394976C>G , CM000664.1:g.179394976C>G	GRCh37
NC_000002.10:g.179103222C>G	NCBI36
NG_011618.3:g.305554G>C , LRG_391:g.305554G>C
NG_051363.1:g.12423C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98662G>C (TTN)	ENSP00000343764.6:p.Asp32888His
ENST00000342175.11:c.79747G>C (TTN)	ENSP00000340554.6:p.Asp26583His
ENST00000359218.10:c.79546G>C (TTN)	ENSP00000352154.5:p.Asp26516His
ENST00000342175.10:c.79747G>C (TTN)	ENSP00000340554.6:p.Asp26583His
ENST00000342992.10:c.98662G>C (TTN)	ENSP00000343764.6:p.Asp32888His
ENST00000359218.9:c.79546G>C (TTN)	ENSP00000352154.5:p.Asp26516His
ENST00000460472.6:c.79171G>C (TTN)	ENSP00000434586.1:p.Asp26391His
ENST00000589042.5:c.106366G>C (TTN) MANE Select	ENSP00000467141.1:p.Asp35456His
ENST00000591111.5:c.101443G>C (TTN)	ENSP00000465570.1:p.Asp33815His
ENST00000615779.4:c.101443G>C (TTN)	ENSP00000483597.1:p.Asp33815His
NM_001256850.1:c.101443G>C (TTN)	NP_001243779.1:p.Asp33815His
NM_001267550.2:c.106366G>C (TTN) MANE Select	NP_001254479.2:p.Asp35456His
NM_003319.4:c.79171G>C (TTN)	NP_003310.4:p.Asp26391His
NM_133378.4:c.98662G>C (TTN)	NP_596869.4:p.Asp32888His
NM_133432.3:c.79546G>C (TTN)	NP_597676.3:p.Asp26516His
NM_133437.4:c.79747G>C (TTN)	NP_597681.4:p.Asp26583His
NR_038271.1:n.446+6613C>G (TTN-AS1)
NR_038272.1:n.220-5483C>G (TTN-AS1)
XM_011511729.1:c.105463G>C (TTN)	XP_011510031.1:p.Asp35155His
XM_011511730.1:c.79357G>C (TTN)	XP_011510032.1:p.Asp26453His
XM_011511731.1:c.79216G>C (TTN)	XP_011510033.1:p.Asp26406His
XM_017004819.1:c.105259G>C (TTN)	XP_016860308.1:p.Asp35087His
XM_017004820.1:c.100657G>C (TTN)	XP_016860309.1:p.Asp33553His
XM_017004821.1:c.100654G>C (TTN)	XP_016860310.1:p.Asp33552His
XM_017004822.1:c.97696G>C (TTN)	XP_016860311.1:p.Asp32566His
XM_017004823.1:c.79312G>C (TTN)	XP_016860312.1:p.Asp26438His
XM_024453094.1:c.100807G>C (TTN)	XP_024308862.1:p.Asp33603His
XM_024453095.1:c.100804G>C (TTN)	XP_024308863.1:p.Asp33602His
XM_024453096.1:c.100237G>C (TTN)	XP_024308864.1:p.Asp33413His
XM_024453097.1:c.97579G>C (TTN)	XP_024308865.1:p.Asp32527His
XM_024453098.1:c.97498G>C (TTN)	XP_024308866.1:p.Asp32500His
XM_024453099.1:c.79261G>C (TTN)	XP_024308867.1:p.Asp26421His
XM_024453100.1:c.69115G>C (TTN)	XP_024308868.1:p.Asp23039His