Canonical Allele Identifier: CA349621863

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178618683-T-C
• MyVariant Identifiers: chr2:g.179483410T>C (hg19) ; chr2:g.178618683T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618683T>C , CM000664.2:g.178618683T>C	GRCh38
NC_000002.11:g.179483410T>C , CM000664.1:g.179483410T>C	GRCh37
NC_000002.10:g.179191655T>C	NCBI36
NG_011618.3:g.217120A>G , LRG_391:g.217120A>G
NG_051363.1:g.100857T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39163A>G (TTN)	ENSP00000343764.6:p.Arg13055Gly
ENST00000342175.11:c.20248A>G (TTN)	ENSP00000340554.6:p.Arg6750Gly
ENST00000359218.10:c.20047A>G (TTN)	ENSP00000352154.5:p.Arg6683Gly
ENST00000342175.10:c.20248A>G (TTN)	ENSP00000340554.6:p.Arg6750Gly
ENST00000342992.10:c.39163A>G (TTN)	ENSP00000343764.6:p.Arg13055Gly
ENST00000359218.9:c.20047A>G (TTN)	ENSP00000352154.5:p.Arg6683Gly
ENST00000460472.6:c.19672A>G (TTN)	ENSP00000434586.1:p.Arg6558Gly
ENST00000589042.5:c.46867A>G (TTN) MANE Select	ENSP00000467141.1:p.Arg15623Gly
ENST00000591111.5:c.41944A>G (TTN)	ENSP00000465570.1:p.Arg13982Gly
ENST00000615779.4:c.41944A>G (TTN)	ENSP00000483597.1:p.Arg13982Gly
NM_001256850.1:c.41944A>G (TTN)	NP_001243779.1:p.Arg13982Gly
NM_001267550.2:c.46867A>G (TTN) MANE Select	NP_001254479.2:p.Arg15623Gly
NM_003319.4:c.19672A>G (TTN)	NP_003310.4:p.Arg6558Gly
NM_133378.4:c.39163A>G (TTN)	NP_596869.4:p.Arg13055Gly
NM_133432.3:c.20047A>G (TTN)	NP_597676.3:p.Arg6683Gly
NM_133437.4:c.20248A>G (TTN)	NP_597681.4:p.Arg6750Gly
NR_038271.1:n.1605-1070T>C (TTN-AS1)
XM_011511729.1:c.45964A>G (TTN)	XP_011510031.1:p.Arg15322Gly
XM_011511730.1:c.19858A>G (TTN)	XP_011510032.1:p.Arg6620Gly
XM_011511731.1:c.19717A>G (TTN)	XP_011510033.1:p.Arg6573Gly
XM_017004819.1:c.45760A>G (TTN)	XP_016860308.1:p.Arg15254Gly
XM_017004820.1:c.41158A>G (TTN)	XP_016860309.1:p.Arg13720Gly
XM_017004821.1:c.41155A>G (TTN)	XP_016860310.1:p.Arg13719Gly
XM_017004822.1:c.38197A>G (TTN)	XP_016860311.1:p.Arg12733Gly
XM_017004823.1:c.19813A>G (TTN)	XP_016860312.1:p.Arg6605Gly
XM_024453094.1:c.41308A>G (TTN)	XP_024308862.1:p.Arg13770Gly
XM_024453095.1:c.41305A>G (TTN)	XP_024308863.1:p.Arg13769Gly
XM_024453096.1:c.40738A>G (TTN)	XP_024308864.1:p.Arg13580Gly
XM_024453097.1:c.38080A>G (TTN)	XP_024308865.1:p.Arg12694Gly
XM_024453098.1:c.37999A>G (TTN)	XP_024308866.1:p.Arg12667Gly
XM_024453099.1:c.19762A>G (TTN)	XP_024308867.1:p.Arg6588Gly
XM_024453100.1:c.9616A>G (TTN)	XP_024308868.1:p.Arg3206Gly