Canonical Allele Identifier: CA311196

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 203086
• ClinVar RCV Id: RCV001704939 ; RCV001852407
• dbSNP Id: rs794729566
• gnomAD v4: 2-178531819-A-C
• MyVariant Identifiers: chr2:g.179396546A>C (hg19) ; chr2:g.178531819A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178531819A>C , CM000664.2:g.178531819A>C	GRCh38
NC_000002.11:g.179396546A>C , CM000664.1:g.179396546A>C	GRCh37
NC_000002.10:g.179104792A>C	NCBI36
NG_011618.3:g.303984T>G , LRG_391:g.303984T>G
NG_051363.1:g.13993A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.97092T>G (TTN)	ENSP00000343764.6:p.Ser32364Arg
ENST00000342175.11:c.78177T>G (TTN)	ENSP00000340554.6:p.Ser26059Arg
ENST00000359218.10:c.77976T>G (TTN)	ENSP00000352154.5:p.Ser25992Arg
ENST00000342175.10:c.78177T>G (TTN)	ENSP00000340554.6:p.Ser26059Arg
ENST00000342992.10:c.97092T>G (TTN)	ENSP00000343764.6:p.Ser32364Arg
ENST00000359218.9:c.77976T>G (TTN)	ENSP00000352154.5:p.Ser25992Arg
ENST00000460472.6:c.77601T>G (TTN)	ENSP00000434586.1:p.Ser25867Arg
ENST00000589042.5:c.104796T>G (TTN) MANE Select	ENSP00000467141.1:p.Ser34932Arg
ENST00000591111.5:c.99873T>G (TTN)	ENSP00000465570.1:p.Ser33291Arg
ENST00000615779.4:c.99873T>G (TTN)	ENSP00000483597.1:p.Ser33291Arg
NM_001256850.1:c.99873T>G (TTN)	NP_001243779.1:p.Ser33291Arg
NM_001267550.2:c.104796T>G (TTN) MANE Select	NP_001254479.2:p.Ser34932Arg
NM_003319.4:c.77601T>G (TTN)	NP_003310.4:p.Ser25867Arg
NM_133378.4:c.97092T>G (TTN)	NP_596869.4:p.Ser32364Arg
NM_133432.3:c.77976T>G (TTN)	NP_597676.3:p.Ser25992Arg
NM_133437.4:c.78177T>G (TTN)	NP_597681.4:p.Ser26059Arg
NR_038271.1:n.446+8183A>C (TTN-AS1)
NR_038272.1:n.220-3913A>C (TTN-AS1)
XM_011511729.1:c.103893T>G (TTN)	XP_011510031.1:p.Ser34631Arg
XM_011511730.1:c.77787T>G (TTN)	XP_011510032.1:p.Ser25929Arg
XM_011511731.1:c.77646T>G (TTN)	XP_011510033.1:p.Ser25882Arg
XM_017004819.1:c.103689T>G (TTN)	XP_016860308.1:p.Ser34563Arg
XM_017004820.1:c.99087T>G (TTN)	XP_016860309.1:p.Ser33029Arg
XM_017004821.1:c.99084T>G (TTN)	XP_016860310.1:p.Ser33028Arg
XM_017004822.1:c.96126T>G (TTN)	XP_016860311.1:p.Ser32042Arg
XM_017004823.1:c.77742T>G (TTN)	XP_016860312.1:p.Ser25914Arg
XM_024453094.1:c.99237T>G (TTN)	XP_024308862.1:p.Ser33079Arg
XM_024453095.1:c.99234T>G (TTN)	XP_024308863.1:p.Ser33078Arg
XM_024453096.1:c.98667T>G (TTN)	XP_024308864.1:p.Ser32889Arg
XM_024453097.1:c.96009T>G (TTN)	XP_024308865.1:p.Ser32003Arg
XM_024453098.1:c.95928T>G (TTN)	XP_024308866.1:p.Ser31976Arg
XM_024453099.1:c.77691T>G (TTN)	XP_024308867.1:p.Ser25897Arg
XM_024453100.1:c.67545T>G (TTN)	XP_024308868.1:p.Ser22515Arg