Canonical Allele Identifier: CA349411628

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1437208
• ClinVar RCV Id: RCV001946559
• dbSNP Id: rs766157074
• gnomAD v4: 2-178532141-G-C
• MyVariant Identifiers: chr2:g.179396868G>C (hg19) ; chr2:g.178532141G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96770C>G (TTN)	ENSP00000343764.6:p.Ala32257Gly
ENST00000342175.11:c.77855C>G (TTN)	ENSP00000340554.6:p.Ala25952Gly
ENST00000359218.10:c.77654C>G (TTN)	ENSP00000352154.5:p.Ala25885Gly
ENST00000342175.10:c.77855C>G (TTN)	ENSP00000340554.6:p.Ala25952Gly
ENST00000342992.10:c.96770C>G (TTN)	ENSP00000343764.6:p.Ala32257Gly
ENST00000359218.9:c.77654C>G (TTN)	ENSP00000352154.5:p.Ala25885Gly
ENST00000460472.6:c.77279C>G (TTN)	ENSP00000434586.1:p.Ala25760Gly
ENST00000589042.5:c.104474C>G (TTN) MANE Select	ENSP00000467141.1:p.Ala34825Gly
ENST00000591111.5:c.99551C>G (TTN)	ENSP00000465570.1:p.Ala33184Gly
ENST00000615779.4:c.99551C>G (TTN)	ENSP00000483597.1:p.Ala33184Gly
NM_001256850.1:c.99551C>G (TTN)	NP_001243779.1:p.Ala33184Gly
NM_001267550.2:c.104474C>G (TTN) MANE Select	NP_001254479.2:p.Ala34825Gly
NM_003319.4:c.77279C>G (TTN)	NP_003310.4:p.Ala25760Gly
NM_133378.4:c.96770C>G (TTN)	NP_596869.4:p.Ala32257Gly
NM_133432.3:c.77654C>G (TTN)	NP_597676.3:p.Ala25885Gly
NM_133437.4:c.77855C>G (TTN)	NP_597681.4:p.Ala25952Gly
NR_038271.1:n.446+8505G>C (TTN-AS1)
NR_038272.1:n.220-3591G>C (TTN-AS1)
XM_011511729.1:c.103571C>G (TTN)	XP_011510031.1:p.Ala34524Gly
XM_011511730.1:c.77465C>G (TTN)	XP_011510032.1:p.Ala25822Gly
XM_011511731.1:c.77324C>G (TTN)	XP_011510033.1:p.Ala25775Gly
XM_017004819.1:c.103367C>G (TTN)	XP_016860308.1:p.Ala34456Gly
XM_017004820.1:c.98765C>G (TTN)	XP_016860309.1:p.Ala32922Gly
XM_017004821.1:c.98762C>G (TTN)	XP_016860310.1:p.Ala32921Gly
XM_017004822.1:c.95804C>G (TTN)	XP_016860311.1:p.Ala31935Gly
XM_017004823.1:c.77420C>G (TTN)	XP_016860312.1:p.Ala25807Gly
XM_024453094.1:c.98915C>G (TTN)	XP_024308862.1:p.Ala32972Gly
XM_024453095.1:c.98912C>G (TTN)	XP_024308863.1:p.Ala32971Gly
XM_024453096.1:c.98345C>G (TTN)	XP_024308864.1:p.Ala32782Gly
XM_024453097.1:c.95687C>G (TTN)	XP_024308865.1:p.Ala31896Gly
XM_024453098.1:c.95606C>G (TTN)	XP_024308866.1:p.Ala31869Gly
XM_024453099.1:c.77369C>G (TTN)	XP_024308867.1:p.Ala25790Gly
XM_024453100.1:c.67223C>G (TTN)	XP_024308868.1:p.Ala22408Gly