Canonical Allele Identifier: CA430274857

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2935995
• ClinVar RCV Id: RCV003796281
• dbSNP Id: rs2057774608
• MyVariant Identifiers: chr2:g.179483408T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618681T>C , CM000664.2:g.178618681T>C	GRCh38
NC_000002.11:g.179483408T>C , CM000664.1:g.179483408T>C	GRCh37
NC_000002.10:g.179191653T>C	NCBI36
NG_011618.3:g.217122A>G , LRG_391:g.217122A>G
NG_051363.1:g.100855T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39165A>G (TTN)	ENSP00000343764.6:p.Arg13055=
ENST00000342175.11:c.20250A>G (TTN)	ENSP00000340554.6:p.Arg6750=
ENST00000359218.10:c.20049A>G (TTN)	ENSP00000352154.5:p.Arg6683=
ENST00000342175.10:c.20250A>G (TTN)	ENSP00000340554.6:p.Arg6750=
ENST00000342992.10:c.39165A>G (TTN)	ENSP00000343764.6:p.Arg13055=
ENST00000359218.9:c.20049A>G (TTN)	ENSP00000352154.5:p.Arg6683=
ENST00000460472.6:c.19674A>G (TTN)	ENSP00000434586.1:p.Arg6558=
ENST00000589042.5:c.46869A>G (TTN) MANE Select	ENSP00000467141.1:p.Arg15623=
ENST00000591111.5:c.41946A>G (TTN)	ENSP00000465570.1:p.Arg13982=
ENST00000615779.4:c.41946A>G (TTN)	ENSP00000483597.1:p.Arg13982=
NM_001256850.1:c.41946A>G (TTN)	NP_001243779.1:p.Arg13982=
NM_001267550.2:c.46869A>G (TTN) MANE Select	NP_001254479.2:p.Arg15623=
NM_003319.4:c.19674A>G (TTN)	NP_003310.4:p.Arg6558=
NM_133378.4:c.39165A>G (TTN)	NP_596869.4:p.Arg13055=
NM_133432.3:c.20049A>G (TTN)	NP_597676.3:p.Arg6683=
NM_133437.4:c.20250A>G (TTN)	NP_597681.4:p.Arg6750=
NR_038271.1:n.1605-1072T>C (TTN-AS1)
XM_011511729.1:c.45966A>G (TTN)	XP_011510031.1:p.Arg15322=
XM_011511730.1:c.19860A>G (TTN)	XP_011510032.1:p.Arg6620=
XM_011511731.1:c.19719A>G (TTN)	XP_011510033.1:p.Arg6573=
XM_017004819.1:c.45762A>G (TTN)	XP_016860308.1:p.Arg15254=
XM_017004820.1:c.41160A>G (TTN)	XP_016860309.1:p.Arg13720=
XM_017004821.1:c.41157A>G (TTN)	XP_016860310.1:p.Arg13719=
XM_017004822.1:c.38199A>G (TTN)	XP_016860311.1:p.Arg12733=
XM_017004823.1:c.19815A>G (TTN)	XP_016860312.1:p.Arg6605=
XM_024453094.1:c.41310A>G (TTN)	XP_024308862.1:p.Arg13770=
XM_024453095.1:c.41307A>G (TTN)	XP_024308863.1:p.Arg13769=
XM_024453096.1:c.40740A>G (TTN)	XP_024308864.1:p.Arg13580=
XM_024453097.1:c.38082A>G (TTN)	XP_024308865.1:p.Arg12694=
XM_024453098.1:c.38001A>G (TTN)	XP_024308866.1:p.Arg12667=
XM_024453099.1:c.19764A>G (TTN)	XP_024308867.1:p.Arg6588=
XM_024453100.1:c.9618A>G (TTN)	XP_024308868.1:p.Arg3206=