Canonical Allele Identifier: CA349621028

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435181C>T (hg19) ; chr2:g.178570454C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570454C>T , CM000664.2:g.178570454C>T	GRCh38
NC_000002.11:g.179435181C>T , CM000664.1:g.179435181C>T	GRCh37
NC_000002.10:g.179143427C>T	NCBI36
NG_011618.3:g.265349G>A , LRG_391:g.265349G>A
NG_051363.1:g.52628C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67974G>A (TTN)	ENSP00000343764.6:p.Trp22658Ter
ENST00000342175.11:c.49059G>A (TTN)	ENSP00000340554.6:p.Trp16353Ter
ENST00000359218.10:c.48858G>A (TTN)	ENSP00000352154.5:p.Trp16286Ter
ENST00000342175.10:c.49059G>A (TTN)	ENSP00000340554.6:p.Trp16353Ter
ENST00000342992.10:c.67974G>A (TTN)	ENSP00000343764.6:p.Trp22658Ter
ENST00000359218.9:c.48858G>A (TTN)	ENSP00000352154.5:p.Trp16286Ter
ENST00000460472.6:c.48483G>A (TTN)	ENSP00000434586.1:p.Trp16161Ter
ENST00000589042.5:c.75678G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp25226Ter
ENST00000591111.5:c.70755G>A (TTN)	ENSP00000465570.1:p.Trp23585Ter
ENST00000615779.4:c.70755G>A (TTN)	ENSP00000483597.1:p.Trp23585Ter
NM_001256850.1:c.70755G>A (TTN)	NP_001243779.1:p.Trp23585Ter
NM_001267550.2:c.75678G>A (TTN) MANE Select	NP_001254479.2:p.Trp25226Ter
NM_003319.4:c.48483G>A (TTN)	NP_003310.4:p.Trp16161Ter
NM_133378.4:c.67974G>A (TTN)	NP_596869.4:p.Trp22658Ter
NM_133432.3:c.48858G>A (TTN)	NP_597676.3:p.Trp16286Ter
NM_133437.4:c.49059G>A (TTN)	NP_597681.4:p.Trp16353Ter
NR_038271.1:n.447-846C>T (TTN-AS1)
NR_038272.1:n.2044-12118C>T (TTN-AS1)
XM_011511729.1:c.74775G>A (TTN)	XP_011510031.1:p.Trp24925Ter
XM_011511730.1:c.48669G>A (TTN)	XP_011510032.1:p.Trp16223Ter
XM_011511731.1:c.48528G>A (TTN)	XP_011510033.1:p.Trp16176Ter
XM_017004819.1:c.74571G>A (TTN)	XP_016860308.1:p.Trp24857Ter
XM_017004820.1:c.69969G>A (TTN)	XP_016860309.1:p.Trp23323Ter
XM_017004821.1:c.69966G>A (TTN)	XP_016860310.1:p.Trp23322Ter
XM_017004822.1:c.67008G>A (TTN)	XP_016860311.1:p.Trp22336Ter
XM_017004823.1:c.48624G>A (TTN)	XP_016860312.1:p.Trp16208Ter
XM_024453094.1:c.70119G>A (TTN)	XP_024308862.1:p.Trp23373Ter
XM_024453095.1:c.70116G>A (TTN)	XP_024308863.1:p.Trp23372Ter
XM_024453096.1:c.69549G>A (TTN)	XP_024308864.1:p.Trp23183Ter
XM_024453097.1:c.66891G>A (TTN)	XP_024308865.1:p.Trp22297Ter
XM_024453098.1:c.66810G>A (TTN)	XP_024308866.1:p.Trp22270Ter
XM_024453099.1:c.48573G>A (TTN)	XP_024308867.1:p.Trp16191Ter
XM_024453100.1:c.38427G>A (TTN)	XP_024308868.1:p.Trp12809Ter