Canonical Allele Identifier: CA349600574

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179431935C>G (hg19) ; chr2:g.178567208C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567208C>G , CM000664.2:g.178567208C>G	GRCh38
NC_000002.11:g.179431935C>G , CM000664.1:g.179431935C>G	GRCh37
NC_000002.10:g.179140181C>G	NCBI36
NG_011618.3:g.268595G>C , LRG_391:g.268595G>C
NG_051363.1:g.49382C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.71220G>C (TTN)	ENSP00000343764.6:p.Trp23740Cys
ENST00000342175.11:c.52305G>C (TTN)	ENSP00000340554.6:p.Trp17435Cys
ENST00000359218.10:c.52104G>C (TTN)	ENSP00000352154.5:p.Trp17368Cys
ENST00000342175.10:c.52305G>C (TTN)	ENSP00000340554.6:p.Trp17435Cys
ENST00000342992.10:c.71220G>C (TTN)	ENSP00000343764.6:p.Trp23740Cys
ENST00000359218.9:c.52104G>C (TTN)	ENSP00000352154.5:p.Trp17368Cys
ENST00000460472.6:c.51729G>C (TTN)	ENSP00000434586.1:p.Trp17243Cys
ENST00000589042.5:c.78924G>C (TTN) MANE Select	ENSP00000467141.1:p.Trp26308Cys
ENST00000591111.5:c.74001G>C (TTN)	ENSP00000465570.1:p.Trp24667Cys
ENST00000615779.4:c.74001G>C (TTN)	ENSP00000483597.1:p.Trp24667Cys
NM_001256850.1:c.74001G>C (TTN)	NP_001243779.1:p.Trp24667Cys
NM_001267550.2:c.78924G>C (TTN) MANE Select	NP_001254479.2:p.Trp26308Cys
NM_003319.4:c.51729G>C (TTN)	NP_003310.4:p.Trp17243Cys
NM_133378.4:c.71220G>C (TTN)	NP_596869.4:p.Trp23740Cys
NM_133432.3:c.52104G>C (TTN)	NP_597676.3:p.Trp17368Cys
NM_133437.4:c.52305G>C (TTN)	NP_597681.4:p.Trp17435Cys
NR_038271.1:n.447-4092C>G (TTN-AS1)
NR_038272.1:n.2044-15364C>G (TTN-AS1)
XM_011511729.1:c.78021G>C (TTN)	XP_011510031.1:p.Trp26007Cys
XM_011511730.1:c.51915G>C (TTN)	XP_011510032.1:p.Trp17305Cys
XM_011511731.1:c.51774G>C (TTN)	XP_011510033.1:p.Trp17258Cys
XM_017004819.1:c.77817G>C (TTN)	XP_016860308.1:p.Trp25939Cys
XM_017004820.1:c.73215G>C (TTN)	XP_016860309.1:p.Trp24405Cys
XM_017004821.1:c.73212G>C (TTN)	XP_016860310.1:p.Trp24404Cys
XM_017004822.1:c.70254G>C (TTN)	XP_016860311.1:p.Trp23418Cys
XM_017004823.1:c.51870G>C (TTN)	XP_016860312.1:p.Trp17290Cys
XM_024453094.1:c.73365G>C (TTN)	XP_024308862.1:p.Trp24455Cys
XM_024453095.1:c.73362G>C (TTN)	XP_024308863.1:p.Trp24454Cys
XM_024453096.1:c.72795G>C (TTN)	XP_024308864.1:p.Trp24265Cys
XM_024453097.1:c.70137G>C (TTN)	XP_024308865.1:p.Trp23379Cys
XM_024453098.1:c.70056G>C (TTN)	XP_024308866.1:p.Trp23352Cys
XM_024453099.1:c.51819G>C (TTN)	XP_024308867.1:p.Trp17273Cys
XM_024453100.1:c.41673G>C (TTN)	XP_024308868.1:p.Trp13891Cys