Canonical Allele Identifier: CA349445880

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2154143410
• MyVariant Identifiers: chr2:g.179408005C>G (hg19) ; chr2:g.178543278C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543278C>G , CM000664.2:g.178543278C>G	GRCh38
NC_000002.11:g.179408005C>G , CM000664.1:g.179408005C>G	GRCh37
NC_000002.10:g.179116251C>G	NCBI36
NG_011618.3:g.292525G>C , LRG_391:g.292525G>C
NG_051363.1:g.25452C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88991G>C (TTN)	ENSP00000343764.6:p.Ser29664Thr
ENST00000342175.11:c.70076G>C (TTN)	ENSP00000340554.6:p.Ser23359Thr
ENST00000359218.10:c.69875G>C (TTN)	ENSP00000352154.5:p.Ser23292Thr
ENST00000342175.10:c.70076G>C (TTN)	ENSP00000340554.6:p.Ser23359Thr
ENST00000342992.10:c.88991G>C (TTN)	ENSP00000343764.6:p.Ser29664Thr
ENST00000359218.9:c.69875G>C (TTN)	ENSP00000352154.5:p.Ser23292Thr
ENST00000460472.6:c.69500G>C (TTN)	ENSP00000434586.1:p.Ser23167Thr
ENST00000589042.5:c.96695G>C (TTN) MANE Select	ENSP00000467141.1:p.Ser32232Thr
ENST00000591111.5:c.91772G>C (TTN)	ENSP00000465570.1:p.Ser30591Thr
ENST00000615779.4:c.91772G>C (TTN)	ENSP00000483597.1:p.Ser30591Thr
NM_001256850.1:c.91772G>C (TTN)	NP_001243779.1:p.Ser30591Thr
NM_001267550.2:c.96695G>C (TTN) MANE Select	NP_001254479.2:p.Ser32232Thr
NM_003319.4:c.69500G>C (TTN)	NP_003310.4:p.Ser23167Thr
NM_133378.4:c.88991G>C (TTN)	NP_596869.4:p.Ser29664Thr
NM_133432.3:c.69875G>C (TTN)	NP_597676.3:p.Ser23292Thr
NM_133437.4:c.70076G>C (TTN)	NP_597681.4:p.Ser23359Thr
NR_038271.1:n.446+19642C>G (TTN-AS1)
NR_038272.1:n.2043+917C>G (TTN-AS1)
XM_011511729.1:c.95792G>C (TTN)	XP_011510031.1:p.Ser31931Thr
XM_011511730.1:c.69686G>C (TTN)	XP_011510032.1:p.Ser23229Thr
XM_011511731.1:c.69545G>C (TTN)	XP_011510033.1:p.Ser23182Thr
XM_017004819.1:c.95588G>C (TTN)	XP_016860308.1:p.Ser31863Thr
XM_017004820.1:c.90986G>C (TTN)	XP_016860309.1:p.Ser30329Thr
XM_017004821.1:c.90983G>C (TTN)	XP_016860310.1:p.Ser30328Thr
XM_017004822.1:c.88025G>C (TTN)	XP_016860311.1:p.Ser29342Thr
XM_017004823.1:c.69641G>C (TTN)	XP_016860312.1:p.Ser23214Thr
XM_024453094.1:c.91136G>C (TTN)	XP_024308862.1:p.Ser30379Thr
XM_024453095.1:c.91133G>C (TTN)	XP_024308863.1:p.Ser30378Thr
XM_024453096.1:c.90566G>C (TTN)	XP_024308864.1:p.Ser30189Thr
XM_024453097.1:c.87908G>C (TTN)	XP_024308865.1:p.Ser29303Thr
XM_024453098.1:c.87827G>C (TTN)	XP_024308866.1:p.Ser29276Thr
XM_024453099.1:c.69590G>C (TTN)	XP_024308867.1:p.Ser23197Thr
XM_024453100.1:c.59444G>C (TTN)	XP_024308868.1:p.Ser19815Thr