Canonical Allele Identifier: CA430246073

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 513717
• ClinVar RCV Id: RCV000615384 ; RCV000727790 ; RCV002065418 ; RCV002368092
• dbSNP Id: rs1553542686
• gnomAD v4: 2-178553548-T-C
• MyVariant Identifiers: chr2:g.179418275T>C (hg19) ; chr2:g.178553548T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178553548T>C , CM000664.2:g.178553548T>C	GRCh38
NC_000002.11:g.179418275T>C , CM000664.1:g.179418275T>C	GRCh37
NC_000002.10:g.179126521T>C	NCBI36
NG_011618.3:g.282255A>G , LRG_391:g.282255A>G
NG_051363.1:g.35722T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.81753A>G (TTN)	ENSP00000343764.6:p.Gly27251=
ENST00000342175.11:c.62838A>G (TTN)	ENSP00000340554.6:p.Gly20946=
ENST00000359218.10:c.62637A>G (TTN)	ENSP00000352154.5:p.Gly20879=
ENST00000342175.10:c.62838A>G (TTN)	ENSP00000340554.6:p.Gly20946=
ENST00000342992.10:c.81753A>G (TTN)	ENSP00000343764.6:p.Gly27251=
ENST00000359218.9:c.62637A>G (TTN)	ENSP00000352154.5:p.Gly20879=
ENST00000460472.6:c.62262A>G (TTN)	ENSP00000434586.1:p.Gly20754=
ENST00000589042.5:c.89457A>G (TTN) MANE Select	ENSP00000467141.1:p.Gly29819=
ENST00000591111.5:c.84534A>G (TTN)	ENSP00000465570.1:p.Gly28178=
ENST00000615779.4:c.84534A>G (TTN)	ENSP00000483597.1:p.Gly28178=
NM_001256850.1:c.84534A>G (TTN)	NP_001243779.1:p.Gly28178=
NM_001267550.2:c.89457A>G (TTN) MANE Select	NP_001254479.2:p.Gly29819=
NM_003319.4:c.62262A>G (TTN)	NP_003310.4:p.Gly20754=
NM_133378.4:c.81753A>G (TTN)	NP_596869.4:p.Gly27251=
NM_133432.3:c.62637A>G (TTN)	NP_597676.3:p.Gly20879=
NM_133437.4:c.62838A>G (TTN)	NP_597681.4:p.Gly20946=
NR_038271.1:n.447-17752T>C (TTN-AS1)
NR_038272.1:n.2043+11187T>C (TTN-AS1)
XM_011511729.1:c.88554A>G (TTN)	XP_011510031.1:p.Gly29518=
XM_011511730.1:c.62448A>G (TTN)	XP_011510032.1:p.Gly20816=
XM_011511731.1:c.62307A>G (TTN)	XP_011510033.1:p.Gly20769=
XM_017004819.1:c.88350A>G (TTN)	XP_016860308.1:p.Gly29450=
XM_017004820.1:c.83748A>G (TTN)	XP_016860309.1:p.Gly27916=
XM_017004821.1:c.83745A>G (TTN)	XP_016860310.1:p.Gly27915=
XM_017004822.1:c.80787A>G (TTN)	XP_016860311.1:p.Gly26929=
XM_017004823.1:c.62403A>G (TTN)	XP_016860312.1:p.Gly20801=
XM_024453094.1:c.83898A>G (TTN)	XP_024308862.1:p.Gly27966=
XM_024453095.1:c.83895A>G (TTN)	XP_024308863.1:p.Gly27965=
XM_024453096.1:c.83328A>G (TTN)	XP_024308864.1:p.Gly27776=
XM_024453097.1:c.80670A>G (TTN)	XP_024308865.1:p.Gly26890=
XM_024453098.1:c.80589A>G (TTN)	XP_024308866.1:p.Gly26863=
XM_024453099.1:c.62352A>G (TTN)	XP_024308867.1:p.Gly20784=
XM_024453100.1:c.52206A>G (TTN)	XP_024308868.1:p.Gly17402=