Canonical Allele Identifier: CA349604943

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179478644G>T (hg19) ; chr2:g.178613917G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178613917G>T , CM000664.2:g.178613917G>T	GRCh38
NC_000002.11:g.179478644G>T , CM000664.1:g.179478644G>T	GRCh37
NC_000002.10:g.179186889G>T	NCBI36
NG_011618.3:g.221886C>A , LRG_391:g.221886C>A
NG_051363.1:g.96091G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.41662C>A (TTN)	ENSP00000343764.6:p.Arg13888Ser
ENST00000342175.11:c.22747C>A (TTN)	ENSP00000340554.6:p.Arg7583Ser
ENST00000359218.10:c.22546C>A (TTN)	ENSP00000352154.5:p.Arg7516Ser
ENST00000342175.10:c.22747C>A (TTN)	ENSP00000340554.6:p.Arg7583Ser
ENST00000342992.10:c.41662C>A (TTN)	ENSP00000343764.6:p.Arg13888Ser
ENST00000359218.9:c.22546C>A (TTN)	ENSP00000352154.5:p.Arg7516Ser
ENST00000460472.6:c.22171C>A (TTN)	ENSP00000434586.1:p.Arg7391Ser
ENST00000589042.5:c.49366C>A (TTN) MANE Select	ENSP00000467141.1:p.Arg16456Ser
ENST00000591111.5:c.44443C>A (TTN)	ENSP00000465570.1:p.Arg14815Ser
ENST00000615779.4:c.44443C>A (TTN)	ENSP00000483597.1:p.Arg14815Ser
NM_001256850.1:c.44443C>A (TTN)	NP_001243779.1:p.Arg14815Ser
NM_001267550.2:c.49366C>A (TTN) MANE Select	NP_001254479.2:p.Arg16456Ser
NM_003319.4:c.22171C>A (TTN)	NP_003310.4:p.Arg7391Ser
NM_133378.4:c.41662C>A (TTN)	NP_596869.4:p.Arg13888Ser
NM_133432.3:c.22546C>A (TTN)	NP_597676.3:p.Arg7516Ser
NM_133437.4:c.22747C>A (TTN)	NP_597681.4:p.Arg7583Ser
NR_038271.1:n.783-118G>T (TTN-AS1)
XM_011511729.1:c.48463C>A (TTN)	XP_011510031.1:p.Arg16155Ser
XM_011511730.1:c.22357C>A (TTN)	XP_011510032.1:p.Arg7453Ser
XM_011511731.1:c.22216C>A (TTN)	XP_011510033.1:p.Arg7406Ser
XM_017004819.1:c.48259C>A (TTN)	XP_016860308.1:p.Arg16087Ser
XM_017004820.1:c.43657C>A (TTN)	XP_016860309.1:p.Arg14553Ser
XM_017004821.1:c.43654C>A (TTN)	XP_016860310.1:p.Arg14552Ser
XM_017004822.1:c.40696C>A (TTN)	XP_016860311.1:p.Arg13566Ser
XM_017004823.1:c.22312C>A (TTN)	XP_016860312.1:p.Arg7438Ser
XM_024453094.1:c.43807C>A (TTN)	XP_024308862.1:p.Arg14603Ser
XM_024453095.1:c.43804C>A (TTN)	XP_024308863.1:p.Arg14602Ser
XM_024453096.1:c.43237C>A (TTN)	XP_024308864.1:p.Arg14413Ser
XM_024453097.1:c.40579C>A (TTN)	XP_024308865.1:p.Arg13527Ser
XM_024453098.1:c.40498C>A (TTN)	XP_024308866.1:p.Arg13500Ser
XM_024453099.1:c.22261C>A (TTN)	XP_024308867.1:p.Arg7421Ser
XM_024453100.1:c.12115C>A (TTN)	XP_024308868.1:p.Arg4039Ser