Canonical Allele Identifier: CA349645243

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179494991G>C (hg19) ; chr2:g.178630264G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630264G>C , CM000664.2:g.178630264G>C	GRCh38
NC_000002.11:g.179494991G>C , CM000664.1:g.179494991G>C	GRCh37
NC_000002.10:g.179203236G>C	NCBI36
NG_011618.3:g.205539C>G , LRG_391:g.205539C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36554C>G	ENSP00000343764.6:p.Ser12185Cys
ENST00000342175.11:c.17639C>G	ENSP00000340554.6:p.Ser5880Cys
ENST00000359218.10:c.17438C>G	ENSP00000352154.5:p.Ser5813Cys
ENST00000342175.10:c.17639C>G	ENSP00000340554.6:p.Ser5880Cys
ENST00000342992.10:c.36554C>G	ENSP00000343764.6:p.Ser12185Cys
ENST00000359218.9:c.17438C>G	ENSP00000352154.5:p.Ser5813Cys
ENST00000460472.6:c.17063C>G	ENSP00000434586.1:p.Ser5688Cys
ENST00000589042.5:c.44258C>G MANE Select	ENSP00000467141.1:p.Ser14753Cys
ENST00000591111.5:c.39335C>G	ENSP00000465570.1:p.Ser13112Cys
ENST00000615779.4:c.39335C>G	ENSP00000483597.1:p.Ser13112Cys
NM_001256850.1:c.39335C>G	NP_001243779.1:p.Ser13112Cys
NM_001267550.2:c.44258C>G MANE Select	NP_001254479.2:p.Ser14753Cys
NM_003319.4:c.17063C>G	NP_003310.4:p.Ser5688Cys
NM_133378.4:c.36554C>G	NP_596869.4:p.Ser12185Cys
NM_133432.3:c.17438C>G	NP_597676.3:p.Ser5813Cys
NM_133437.4:c.17639C>G	NP_597681.4:p.Ser5880Cys
XM_011511729.1:c.43355C>G	XP_011510031.1:p.Ser14452Cys
XM_011511730.1:c.17249C>G	XP_011510032.1:p.Ser5750Cys
XM_011511731.1:c.17108C>G	XP_011510033.1:p.Ser5703Cys
XM_017004819.1:c.43151C>G	XP_016860308.1:p.Ser14384Cys
XM_017004820.1:c.38549C>G	XP_016860309.1:p.Ser12850Cys
XM_017004821.1:c.38546C>G	XP_016860310.1:p.Ser12849Cys
XM_017004822.1:c.35588C>G	XP_016860311.1:p.Ser11863Cys
XM_017004823.1:c.17204C>G	XP_016860312.1:p.Ser5735Cys
XM_024453094.1:c.38699C>G	XP_024308862.1:p.Ser12900Cys
XM_024453095.1:c.38696C>G	XP_024308863.1:p.Ser12899Cys
XM_024453096.1:c.38129C>G	XP_024308864.1:p.Ser12710Cys
XM_024453097.1:c.35471C>G	XP_024308865.1:p.Ser11824Cys
XM_024453098.1:c.35390C>G	XP_024308866.1:p.Ser11797Cys
XM_024453099.1:c.17153C>G	XP_024308867.1:p.Ser5718Cys
XM_024453100.1:c.7007C>G	XP_024308868.1:p.Ser2336Cys