Canonical Allele Identifier: CA349621761

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435272G>C (hg19) ; chr2:g.178570545G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570545G>C , CM000664.2:g.178570545G>C	GRCh38
NC_000002.11:g.179435272G>C , CM000664.1:g.179435272G>C	GRCh37
NC_000002.10:g.179143518G>C	NCBI36
NG_011618.3:g.265258C>G , LRG_391:g.265258C>G
NG_051363.1:g.52719G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67883C>G (TTN)	ENSP00000343764.6:p.Thr22628Ser
ENST00000342175.11:c.48968C>G (TTN)	ENSP00000340554.6:p.Thr16323Ser
ENST00000359218.10:c.48767C>G (TTN)	ENSP00000352154.5:p.Thr16256Ser
ENST00000342175.10:c.48968C>G (TTN)	ENSP00000340554.6:p.Thr16323Ser
ENST00000342992.10:c.67883C>G (TTN)	ENSP00000343764.6:p.Thr22628Ser
ENST00000359218.9:c.48767C>G (TTN)	ENSP00000352154.5:p.Thr16256Ser
ENST00000460472.6:c.48392C>G (TTN)	ENSP00000434586.1:p.Thr16131Ser
ENST00000589042.5:c.75587C>G (TTN) MANE Select	ENSP00000467141.1:p.Thr25196Ser
ENST00000591111.5:c.70664C>G (TTN)	ENSP00000465570.1:p.Thr23555Ser
ENST00000615779.4:c.70664C>G (TTN)	ENSP00000483597.1:p.Thr23555Ser
NM_001256850.1:c.70664C>G (TTN)	NP_001243779.1:p.Thr23555Ser
NM_001267550.2:c.75587C>G (TTN) MANE Select	NP_001254479.2:p.Thr25196Ser
NM_003319.4:c.48392C>G (TTN)	NP_003310.4:p.Thr16131Ser
NM_133378.4:c.67883C>G (TTN)	NP_596869.4:p.Thr22628Ser
NM_133432.3:c.48767C>G (TTN)	NP_597676.3:p.Thr16256Ser
NM_133437.4:c.48968C>G (TTN)	NP_597681.4:p.Thr16323Ser
NR_038271.1:n.447-755G>C (TTN-AS1)
NR_038272.1:n.2044-12027G>C (TTN-AS1)
XM_011511729.1:c.74684C>G (TTN)	XP_011510031.1:p.Thr24895Ser
XM_011511730.1:c.48578C>G (TTN)	XP_011510032.1:p.Thr16193Ser
XM_011511731.1:c.48437C>G (TTN)	XP_011510033.1:p.Thr16146Ser
XM_017004819.1:c.74480C>G (TTN)	XP_016860308.1:p.Thr24827Ser
XM_017004820.1:c.69878C>G (TTN)	XP_016860309.1:p.Thr23293Ser
XM_017004821.1:c.69875C>G (TTN)	XP_016860310.1:p.Thr23292Ser
XM_017004822.1:c.66917C>G (TTN)	XP_016860311.1:p.Thr22306Ser
XM_017004823.1:c.48533C>G (TTN)	XP_016860312.1:p.Thr16178Ser
XM_024453094.1:c.70028C>G (TTN)	XP_024308862.1:p.Thr23343Ser
XM_024453095.1:c.70025C>G (TTN)	XP_024308863.1:p.Thr23342Ser
XM_024453096.1:c.69458C>G (TTN)	XP_024308864.1:p.Thr23153Ser
XM_024453097.1:c.66800C>G (TTN)	XP_024308865.1:p.Thr22267Ser
XM_024453098.1:c.66719C>G (TTN)	XP_024308866.1:p.Thr22240Ser
XM_024453099.1:c.48482C>G (TTN)	XP_024308867.1:p.Thr16161Ser
XM_024453100.1:c.38336C>G (TTN)	XP_024308868.1:p.Thr12779Ser