Canonical Allele Identifier: CA311181

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 203081
• ClinVar RCV Id: RCV001704938 ; RCV001852406
• dbSNP Id: rs766157074
• gnomAD v2: 2-179396868-G-T
• gnomAD v3: 2-178532141-G-T
• gnomAD v4: 2-178532141-G-T
• MyVariant Identifiers: chr2:g.179396868G>T (hg19) ; chr2:g.178532141G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532141G>T , CM000664.2:g.178532141G>T	GRCh38
NC_000002.11:g.179396868G>T , CM000664.1:g.179396868G>T	GRCh37
NC_000002.10:g.179105114G>T	NCBI36
NG_011618.3:g.303662C>A , LRG_391:g.303662C>A
NG_051363.1:g.14315G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96770C>A (TTN)	ENSP00000343764.6:p.Ala32257Asp
ENST00000342175.11:c.77855C>A (TTN)	ENSP00000340554.6:p.Ala25952Asp
ENST00000359218.10:c.77654C>A (TTN)	ENSP00000352154.5:p.Ala25885Asp
ENST00000342175.10:c.77855C>A (TTN)	ENSP00000340554.6:p.Ala25952Asp
ENST00000342992.10:c.96770C>A (TTN)	ENSP00000343764.6:p.Ala32257Asp
ENST00000359218.9:c.77654C>A (TTN)	ENSP00000352154.5:p.Ala25885Asp
ENST00000460472.6:c.77279C>A (TTN)	ENSP00000434586.1:p.Ala25760Asp
ENST00000589042.5:c.104474C>A (TTN) MANE Select	ENSP00000467141.1:p.Ala34825Asp
ENST00000591111.5:c.99551C>A (TTN)	ENSP00000465570.1:p.Ala33184Asp
ENST00000615779.4:c.99551C>A (TTN)	ENSP00000483597.1:p.Ala33184Asp
NM_001256850.1:c.99551C>A (TTN)	NP_001243779.1:p.Ala33184Asp
NM_001267550.2:c.104474C>A (TTN) MANE Select	NP_001254479.2:p.Ala34825Asp
NM_003319.4:c.77279C>A (TTN)	NP_003310.4:p.Ala25760Asp
NM_133378.4:c.96770C>A (TTN)	NP_596869.4:p.Ala32257Asp
NM_133432.3:c.77654C>A (TTN)	NP_597676.3:p.Ala25885Asp
NM_133437.4:c.77855C>A (TTN)	NP_597681.4:p.Ala25952Asp
NR_038271.1:n.446+8505G>T (TTN-AS1)
NR_038272.1:n.220-3591G>T (TTN-AS1)
XM_011511729.1:c.103571C>A (TTN)	XP_011510031.1:p.Ala34524Asp
XM_011511730.1:c.77465C>A (TTN)	XP_011510032.1:p.Ala25822Asp
XM_011511731.1:c.77324C>A (TTN)	XP_011510033.1:p.Ala25775Asp
XM_017004819.1:c.103367C>A (TTN)	XP_016860308.1:p.Ala34456Asp
XM_017004820.1:c.98765C>A (TTN)	XP_016860309.1:p.Ala32922Asp
XM_017004821.1:c.98762C>A (TTN)	XP_016860310.1:p.Ala32921Asp
XM_017004822.1:c.95804C>A (TTN)	XP_016860311.1:p.Ala31935Asp
XM_017004823.1:c.77420C>A (TTN)	XP_016860312.1:p.Ala25807Asp
XM_024453094.1:c.98915C>A (TTN)	XP_024308862.1:p.Ala32972Asp
XM_024453095.1:c.98912C>A (TTN)	XP_024308863.1:p.Ala32971Asp
XM_024453096.1:c.98345C>A (TTN)	XP_024308864.1:p.Ala32782Asp
XM_024453097.1:c.95687C>A (TTN)	XP_024308865.1:p.Ala31896Asp
XM_024453098.1:c.95606C>A (TTN)	XP_024308866.1:p.Ala31869Asp
XM_024453099.1:c.77369C>A (TTN)	XP_024308867.1:p.Ala25790Asp
XM_024453100.1:c.67223C>A (TTN)	XP_024308868.1:p.Ala22408Asp