Canonical Allele Identifier: CA349646361

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179495659T>A (hg19) ; chr2:g.178630932T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630932T>A , CM000664.2:g.178630932T>A	GRCh38
NC_000002.11:g.179495659T>A , CM000664.1:g.179495659T>A	GRCh37
NC_000002.10:g.179203904T>A	NCBI36
NG_011618.3:g.204871A>T , LRG_391:g.204871A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36322A>T	ENSP00000343764.6:p.Lys12108Ter
ENST00000342175.11:c.17407A>T	ENSP00000340554.6:p.Lys5803Ter
ENST00000359218.10:c.17206A>T	ENSP00000352154.5:p.Lys5736Ter
ENST00000342175.10:c.17407A>T	ENSP00000340554.6:p.Lys5803Ter
ENST00000342992.10:c.36322A>T	ENSP00000343764.6:p.Lys12108Ter
ENST00000359218.9:c.17206A>T	ENSP00000352154.5:p.Lys5736Ter
ENST00000460472.6:c.16831A>T	ENSP00000434586.1:p.Lys5611Ter
ENST00000589042.5:c.44026A>T MANE Select	ENSP00000467141.1:p.Lys14676Ter
ENST00000591111.5:c.39103A>T	ENSP00000465570.1:p.Lys13035Ter
ENST00000615779.4:c.39103A>T	ENSP00000483597.1:p.Lys13035Ter
NM_001256850.1:c.39103A>T	NP_001243779.1:p.Lys13035Ter
NM_001267550.2:c.44026A>T MANE Select	NP_001254479.2:p.Lys14676Ter
NM_003319.4:c.16831A>T	NP_003310.4:p.Lys5611Ter
NM_133378.4:c.36322A>T	NP_596869.4:p.Lys12108Ter
NM_133432.3:c.17206A>T	NP_597676.3:p.Lys5736Ter
NM_133437.4:c.17407A>T	NP_597681.4:p.Lys5803Ter
XM_011511729.1:c.43123A>T	XP_011510031.1:p.Lys14375Ter
XM_011511730.1:c.17017A>T	XP_011510032.1:p.Lys5673Ter
XM_011511731.1:c.16876A>T	XP_011510033.1:p.Lys5626Ter
XM_017004819.1:c.42919A>T	XP_016860308.1:p.Lys14307Ter
XM_017004820.1:c.38317A>T	XP_016860309.1:p.Lys12773Ter
XM_017004821.1:c.38314A>T	XP_016860310.1:p.Lys12772Ter
XM_017004822.1:c.35356A>T	XP_016860311.1:p.Lys11786Ter
XM_017004823.1:c.16972A>T	XP_016860312.1:p.Lys5658Ter
XM_024453094.1:c.38467A>T	XP_024308862.1:p.Lys12823Ter
XM_024453095.1:c.38464A>T	XP_024308863.1:p.Lys12822Ter
XM_024453096.1:c.37897A>T	XP_024308864.1:p.Lys12633Ter
XM_024453097.1:c.35239A>T	XP_024308865.1:p.Lys11747Ter
XM_024453098.1:c.35158A>T	XP_024308866.1:p.Lys11720Ter
XM_024453099.1:c.16921A>T	XP_024308867.1:p.Lys5641Ter
XM_024453100.1:c.6775A>T	XP_024308868.1:p.Lys2259Ter