Canonical Allele Identifier: CA349511738

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179417293T>G (hg19) ; chr2:g.178552566T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552566T>G , CM000664.2:g.178552566T>G	GRCh38
NC_000002.11:g.179417293T>G , CM000664.1:g.179417293T>G	GRCh37
NC_000002.10:g.179125539T>G	NCBI36
NG_011618.3:g.283237A>C , LRG_391:g.283237A>C
NG_051363.1:g.34740T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82630A>C (TTN)	ENSP00000343764.6:p.Ser27544Arg
ENST00000342175.11:c.63715A>C (TTN)	ENSP00000340554.6:p.Ser21239Arg
ENST00000359218.10:c.63514A>C (TTN)	ENSP00000352154.5:p.Ser21172Arg
ENST00000342175.10:c.63715A>C (TTN)	ENSP00000340554.6:p.Ser21239Arg
ENST00000342992.10:c.82630A>C (TTN)	ENSP00000343764.6:p.Ser27544Arg
ENST00000359218.9:c.63514A>C (TTN)	ENSP00000352154.5:p.Ser21172Arg
ENST00000460472.6:c.63139A>C (TTN)	ENSP00000434586.1:p.Ser21047Arg
ENST00000589042.5:c.90334A>C (TTN) MANE Select	ENSP00000467141.1:p.Ser30112Arg
ENST00000591111.5:c.85411A>C (TTN)	ENSP00000465570.1:p.Ser28471Arg
ENST00000615779.4:c.85411A>C (TTN)	ENSP00000483597.1:p.Ser28471Arg
NM_001256850.1:c.85411A>C (TTN)	NP_001243779.1:p.Ser28471Arg
NM_001267550.2:c.90334A>C (TTN) MANE Select	NP_001254479.2:p.Ser30112Arg
NM_003319.4:c.63139A>C (TTN)	NP_003310.4:p.Ser21047Arg
NM_133378.4:c.82630A>C (TTN)	NP_596869.4:p.Ser27544Arg
NM_133432.3:c.63514A>C (TTN)	NP_597676.3:p.Ser21172Arg
NM_133437.4:c.63715A>C (TTN)	NP_597681.4:p.Ser21239Arg
NR_038271.1:n.447-18734T>G (TTN-AS1)
NR_038272.1:n.2043+10205T>G (TTN-AS1)
XM_011511729.1:c.89431A>C (TTN)	XP_011510031.1:p.Ser29811Arg
XM_011511730.1:c.63325A>C (TTN)	XP_011510032.1:p.Ser21109Arg
XM_011511731.1:c.63184A>C (TTN)	XP_011510033.1:p.Ser21062Arg
XM_017004819.1:c.89227A>C (TTN)	XP_016860308.1:p.Ser29743Arg
XM_017004820.1:c.84625A>C (TTN)	XP_016860309.1:p.Ser28209Arg
XM_017004821.1:c.84622A>C (TTN)	XP_016860310.1:p.Ser28208Arg
XM_017004822.1:c.81664A>C (TTN)	XP_016860311.1:p.Ser27222Arg
XM_017004823.1:c.63280A>C (TTN)	XP_016860312.1:p.Ser21094Arg
XM_024453094.1:c.84775A>C (TTN)	XP_024308862.1:p.Ser28259Arg
XM_024453095.1:c.84772A>C (TTN)	XP_024308863.1:p.Ser28258Arg
XM_024453096.1:c.84205A>C (TTN)	XP_024308864.1:p.Ser28069Arg
XM_024453097.1:c.81547A>C (TTN)	XP_024308865.1:p.Ser27183Arg
XM_024453098.1:c.81466A>C (TTN)	XP_024308866.1:p.Ser27156Arg
XM_024453099.1:c.63229A>C (TTN)	XP_024308867.1:p.Ser21077Arg
XM_024453100.1:c.53083A>C (TTN)	XP_024308868.1:p.Ser17695Arg