Canonical Allele Identifier: CA349427788

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179402299G>A (hg19) ; chr2:g.178537572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537572G>A , CM000664.2:g.178537572G>A	GRCh38
NC_000002.11:g.179402299G>A , CM000664.1:g.179402299G>A	GRCh37
NC_000002.10:g.179110545G>A	NCBI36
NG_011618.3:g.298231C>T , LRG_391:g.298231C>T
NG_051363.1:g.19746G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.91931C>T (TTN)	ENSP00000343764.6:p.Ser30644Phe
ENST00000342175.11:c.73016C>T (TTN)	ENSP00000340554.6:p.Ser24339Phe
ENST00000359218.10:c.72815C>T (TTN)	ENSP00000352154.5:p.Ser24272Phe
ENST00000342175.10:c.73016C>T (TTN)	ENSP00000340554.6:p.Ser24339Phe
ENST00000342992.10:c.91931C>T (TTN)	ENSP00000343764.6:p.Ser30644Phe
ENST00000359218.9:c.72815C>T (TTN)	ENSP00000352154.5:p.Ser24272Phe
ENST00000460472.6:c.72440C>T (TTN)	ENSP00000434586.1:p.Ser24147Phe
ENST00000589042.5:c.99635C>T (TTN) MANE Select	ENSP00000467141.1:p.Ser33212Phe
ENST00000591111.5:c.94712C>T (TTN)	ENSP00000465570.1:p.Ser31571Phe
ENST00000615779.4:c.94712C>T (TTN)	ENSP00000483597.1:p.Ser31571Phe
NM_001256850.1:c.94712C>T (TTN)	NP_001243779.1:p.Ser31571Phe
NM_001267550.2:c.99635C>T (TTN) MANE Select	NP_001254479.2:p.Ser33212Phe
NM_003319.4:c.72440C>T (TTN)	NP_003310.4:p.Ser24147Phe
NM_133378.4:c.91931C>T (TTN)	NP_596869.4:p.Ser30644Phe
NM_133432.3:c.72815C>T (TTN)	NP_597676.3:p.Ser24272Phe
NM_133437.4:c.73016C>T (TTN)	NP_597681.4:p.Ser24339Phe
NR_038271.1:n.446+13936G>A (TTN-AS1)
NR_038272.1:n.528G>A (TTN-AS1)
XM_011511729.1:c.98732C>T (TTN)	XP_011510031.1:p.Ser32911Phe
XM_011511730.1:c.72626C>T (TTN)	XP_011510032.1:p.Ser24209Phe
XM_011511731.1:c.72485C>T (TTN)	XP_011510033.1:p.Ser24162Phe
XM_017004819.1:c.98528C>T (TTN)	XP_016860308.1:p.Ser32843Phe
XM_017004820.1:c.93926C>T (TTN)	XP_016860309.1:p.Ser31309Phe
XM_017004821.1:c.93923C>T (TTN)	XP_016860310.1:p.Ser31308Phe
XM_017004822.1:c.90965C>T (TTN)	XP_016860311.1:p.Ser30322Phe
XM_017004823.1:c.72581C>T (TTN)	XP_016860312.1:p.Ser24194Phe
XM_024453094.1:c.94076C>T (TTN)	XP_024308862.1:p.Ser31359Phe
XM_024453095.1:c.94073C>T (TTN)	XP_024308863.1:p.Ser31358Phe
XM_024453096.1:c.93506C>T (TTN)	XP_024308864.1:p.Ser31169Phe
XM_024453097.1:c.90848C>T (TTN)	XP_024308865.1:p.Ser30283Phe
XM_024453098.1:c.90767C>T (TTN)	XP_024308866.1:p.Ser30256Phe
XM_024453099.1:c.72530C>T (TTN)	XP_024308867.1:p.Ser24177Phe
XM_024453100.1:c.62384C>T (TTN)	XP_024308868.1:p.Ser20795Phe