Canonical Allele Identifier: CA349618706

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2057701723
• MyVariant Identifiers: chr2:g.179482928T>C (hg19) ; chr2:g.178618201T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618201T>C , CM000664.2:g.178618201T>C	GRCh38
NC_000002.11:g.179482928T>C , CM000664.1:g.179482928T>C	GRCh37
NC_000002.10:g.179191173T>C	NCBI36
NG_011618.3:g.217602A>G , LRG_391:g.217602A>G
NG_051363.1:g.100375T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39553A>G (TTN)	ENSP00000343764.6:p.Arg13185Gly
ENST00000342175.11:c.20638A>G (TTN)	ENSP00000340554.6:p.Arg6880Gly
ENST00000359218.10:c.20437A>G (TTN)	ENSP00000352154.5:p.Arg6813Gly
ENST00000342175.10:c.20638A>G (TTN)	ENSP00000340554.6:p.Arg6880Gly
ENST00000342992.10:c.39553A>G (TTN)	ENSP00000343764.6:p.Arg13185Gly
ENST00000359218.9:c.20437A>G (TTN)	ENSP00000352154.5:p.Arg6813Gly
ENST00000460472.6:c.20062A>G (TTN)	ENSP00000434586.1:p.Arg6688Gly
ENST00000589042.5:c.47257A>G (TTN) MANE Select	ENSP00000467141.1:p.Arg15753Gly
ENST00000591111.5:c.42334A>G (TTN)	ENSP00000465570.1:p.Arg14112Gly
ENST00000615779.4:c.42334A>G (TTN)	ENSP00000483597.1:p.Arg14112Gly
NM_001256850.1:c.42334A>G (TTN)	NP_001243779.1:p.Arg14112Gly
NM_001267550.2:c.47257A>G (TTN) MANE Select	NP_001254479.2:p.Arg15753Gly
NM_003319.4:c.20062A>G (TTN)	NP_003310.4:p.Arg6688Gly
NM_133378.4:c.39553A>G (TTN)	NP_596869.4:p.Arg13185Gly
NM_133432.3:c.20437A>G (TTN)	NP_597676.3:p.Arg6813Gly
NM_133437.4:c.20638A>G (TTN)	NP_597681.4:p.Arg6880Gly
NR_038271.1:n.1605-1552T>C (TTN-AS1)
XM_011511729.1:c.46354A>G (TTN)	XP_011510031.1:p.Arg15452Gly
XM_011511730.1:c.20248A>G (TTN)	XP_011510032.1:p.Arg6750Gly
XM_011511731.1:c.20107A>G (TTN)	XP_011510033.1:p.Arg6703Gly
XM_017004819.1:c.46150A>G (TTN)	XP_016860308.1:p.Arg15384Gly
XM_017004820.1:c.41548A>G (TTN)	XP_016860309.1:p.Arg13850Gly
XM_017004821.1:c.41545A>G (TTN)	XP_016860310.1:p.Arg13849Gly
XM_017004822.1:c.38587A>G (TTN)	XP_016860311.1:p.Arg12863Gly
XM_017004823.1:c.20203A>G (TTN)	XP_016860312.1:p.Arg6735Gly
XM_024453094.1:c.41698A>G (TTN)	XP_024308862.1:p.Arg13900Gly
XM_024453095.1:c.41695A>G (TTN)	XP_024308863.1:p.Arg13899Gly
XM_024453096.1:c.41128A>G (TTN)	XP_024308864.1:p.Arg13710Gly
XM_024453097.1:c.38470A>G (TTN)	XP_024308865.1:p.Arg12824Gly
XM_024453098.1:c.38389A>G (TTN)	XP_024308866.1:p.Arg12797Gly
XM_024453099.1:c.20152A>G (TTN)	XP_024308867.1:p.Arg6718Gly
XM_024453100.1:c.10006A>G (TTN)	XP_024308868.1:p.Arg3336Gly