Canonical Allele Identifier: CA349636482

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179436990T>C (hg19) ; chr2:g.178572263T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178572263T>C , CM000664.2:g.178572263T>C	GRCh38
NC_000002.11:g.179436990T>C , CM000664.1:g.179436990T>C	GRCh37
NC_000002.10:g.179145236T>C	NCBI36
NG_011618.3:g.263540A>G , LRG_391:g.263540A>G
NG_051363.1:g.54437T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.66165A>G (TTN)	ENSP00000343764.6:p.Ile22055Met
ENST00000342175.11:c.47250A>G (TTN)	ENSP00000340554.6:p.Ile15750Met
ENST00000359218.10:c.47049A>G (TTN)	ENSP00000352154.5:p.Ile15683Met
ENST00000342175.10:c.47250A>G (TTN)	ENSP00000340554.6:p.Ile15750Met
ENST00000342992.10:c.66165A>G (TTN)	ENSP00000343764.6:p.Ile22055Met
ENST00000359218.9:c.47049A>G (TTN)	ENSP00000352154.5:p.Ile15683Met
ENST00000460472.6:c.46674A>G (TTN)	ENSP00000434586.1:p.Ile15558Met
ENST00000589042.5:c.73869A>G (TTN) MANE Select	ENSP00000467141.1:p.Ile24623Met
ENST00000591111.5:c.68946A>G (TTN)	ENSP00000465570.1:p.Ile22982Met
ENST00000615779.4:c.68946A>G (TTN)	ENSP00000483597.1:p.Ile22982Met
NM_001256850.1:c.68946A>G (TTN)	NP_001243779.1:p.Ile22982Met
NM_001267550.2:c.73869A>G (TTN) MANE Select	NP_001254479.2:p.Ile24623Met
NM_003319.4:c.46674A>G (TTN)	NP_003310.4:p.Ile15558Met
NM_133378.4:c.66165A>G (TTN)	NP_596869.4:p.Ile22055Met
NM_133432.3:c.47049A>G (TTN)	NP_597676.3:p.Ile15683Met
NM_133437.4:c.47250A>G (TTN)	NP_597681.4:p.Ile15750Met
NR_038271.1:n.596+814T>C (TTN-AS1)
NR_038272.1:n.2044-10309T>C (TTN-AS1)
XM_011511729.1:c.72966A>G (TTN)	XP_011510031.1:p.Ile24322Met
XM_011511730.1:c.46860A>G (TTN)	XP_011510032.1:p.Ile15620Met
XM_011511731.1:c.46719A>G (TTN)	XP_011510033.1:p.Ile15573Met
XM_017004819.1:c.72762A>G (TTN)	XP_016860308.1:p.Ile24254Met
XM_017004820.1:c.68160A>G (TTN)	XP_016860309.1:p.Ile22720Met
XM_017004821.1:c.68157A>G (TTN)	XP_016860310.1:p.Ile22719Met
XM_017004822.1:c.65199A>G (TTN)	XP_016860311.1:p.Ile21733Met
XM_017004823.1:c.46815A>G (TTN)	XP_016860312.1:p.Ile15605Met
XM_024453094.1:c.68310A>G (TTN)	XP_024308862.1:p.Ile22770Met
XM_024453095.1:c.68307A>G (TTN)	XP_024308863.1:p.Ile22769Met
XM_024453096.1:c.67740A>G (TTN)	XP_024308864.1:p.Ile22580Met
XM_024453097.1:c.65082A>G (TTN)	XP_024308865.1:p.Ile21694Met
XM_024453098.1:c.65001A>G (TTN)	XP_024308866.1:p.Ile21667Met
XM_024453099.1:c.46764A>G (TTN)	XP_024308867.1:p.Ile15588Met
XM_024453100.1:c.36618A>G (TTN)	XP_024308868.1:p.Ile12206Met