Canonical Allele Identifier: CA430235929

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 756992
• ClinVar RCV Id: RCV000934545
• dbSNP Id: rs1575244212
• gnomAD v4: 2-178532205-T-G
• MyVariant Identifiers: chr2:g.179396932T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532205T>G , CM000664.2:g.178532205T>G	GRCh38
NC_000002.11:g.179396932T>G , CM000664.1:g.179396932T>G	GRCh37
NC_000002.10:g.179105178T>G	NCBI36
NG_011618.3:g.303598A>C , LRG_391:g.303598A>C
NG_051363.1:g.14379T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96706A>C (TTN)	ENSP00000343764.6:p.Arg32236=
ENST00000342175.11:c.77791A>C (TTN)	ENSP00000340554.6:p.Arg25931=
ENST00000359218.10:c.77590A>C (TTN)	ENSP00000352154.5:p.Arg25864=
ENST00000342175.10:c.77791A>C (TTN)	ENSP00000340554.6:p.Arg25931=
ENST00000342992.10:c.96706A>C (TTN)	ENSP00000343764.6:p.Arg32236=
ENST00000359218.9:c.77590A>C (TTN)	ENSP00000352154.5:p.Arg25864=
ENST00000460472.6:c.77215A>C (TTN)	ENSP00000434586.1:p.Arg25739=
ENST00000589042.5:c.104410A>C (TTN) MANE Select	ENSP00000467141.1:p.Arg34804=
ENST00000591111.5:c.99487A>C (TTN)	ENSP00000465570.1:p.Arg33163=
ENST00000615779.4:c.99487A>C (TTN)	ENSP00000483597.1:p.Arg33163=
NM_001256850.1:c.99487A>C (TTN)	NP_001243779.1:p.Arg33163=
NM_001267550.2:c.104410A>C (TTN) MANE Select	NP_001254479.2:p.Arg34804=
NM_003319.4:c.77215A>C (TTN)	NP_003310.4:p.Arg25739=
NM_133378.4:c.96706A>C (TTN)	NP_596869.4:p.Arg32236=
NM_133432.3:c.77590A>C (TTN)	NP_597676.3:p.Arg25864=
NM_133437.4:c.77791A>C (TTN)	NP_597681.4:p.Arg25931=
NR_038271.1:n.446+8569T>G (TTN-AS1)
NR_038272.1:n.220-3527T>G (TTN-AS1)
XM_011511729.1:c.103507A>C (TTN)	XP_011510031.1:p.Arg34503=
XM_011511730.1:c.77401A>C (TTN)	XP_011510032.1:p.Arg25801=
XM_011511731.1:c.77260A>C (TTN)	XP_011510033.1:p.Arg25754=
XM_017004819.1:c.103303A>C (TTN)	XP_016860308.1:p.Arg34435=
XM_017004820.1:c.98701A>C (TTN)	XP_016860309.1:p.Arg32901=
XM_017004821.1:c.98698A>C (TTN)	XP_016860310.1:p.Arg32900=
XM_017004822.1:c.95740A>C (TTN)	XP_016860311.1:p.Arg31914=
XM_017004823.1:c.77356A>C (TTN)	XP_016860312.1:p.Arg25786=
XM_024453094.1:c.98851A>C (TTN)	XP_024308862.1:p.Arg32951=
XM_024453095.1:c.98848A>C (TTN)	XP_024308863.1:p.Arg32950=
XM_024453096.1:c.98281A>C (TTN)	XP_024308864.1:p.Arg32761=
XM_024453097.1:c.95623A>C (TTN)	XP_024308865.1:p.Arg31875=
XM_024453098.1:c.95542A>C (TTN)	XP_024308866.1:p.Arg31848=
XM_024453099.1:c.77305A>C (TTN)	XP_024308867.1:p.Arg25769=
XM_024453100.1:c.67159A>C (TTN)	XP_024308868.1:p.Arg22387=