Canonical Allele Identifier: CA349411890

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1926779
• ClinVar RCV Id: RCV002630833 ; RCV003138308
• dbSNP Id: rs1689452294
• gnomAD v4: 2-178532246-A-G
• MyVariant Identifiers: chr2:g.179396973A>G (hg19) ; chr2:g.178532246A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532246A>G , CM000664.2:g.178532246A>G	GRCh38
NC_000002.11:g.179396973A>G , CM000664.1:g.179396973A>G	GRCh37
NC_000002.10:g.179105219A>G	NCBI36
NG_011618.3:g.303557T>C , LRG_391:g.303557T>C
NG_051363.1:g.14420A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96665T>C (TTN)	ENSP00000343764.6:p.Leu32222Pro
ENST00000342175.11:c.77750T>C (TTN)	ENSP00000340554.6:p.Leu25917Pro
ENST00000359218.10:c.77549T>C (TTN)	ENSP00000352154.5:p.Leu25850Pro
ENST00000342175.10:c.77750T>C (TTN)	ENSP00000340554.6:p.Leu25917Pro
ENST00000342992.10:c.96665T>C (TTN)	ENSP00000343764.6:p.Leu32222Pro
ENST00000359218.9:c.77549T>C (TTN)	ENSP00000352154.5:p.Leu25850Pro
ENST00000460472.6:c.77174T>C (TTN)	ENSP00000434586.1:p.Leu25725Pro
ENST00000589042.5:c.104369T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu34790Pro
ENST00000591111.5:c.99446T>C (TTN)	ENSP00000465570.1:p.Leu33149Pro
ENST00000615779.4:c.99446T>C (TTN)	ENSP00000483597.1:p.Leu33149Pro
NM_001256850.1:c.99446T>C (TTN)	NP_001243779.1:p.Leu33149Pro
NM_001267550.2:c.104369T>C (TTN) MANE Select	NP_001254479.2:p.Leu34790Pro
NM_003319.4:c.77174T>C (TTN)	NP_003310.4:p.Leu25725Pro
NM_133378.4:c.96665T>C (TTN)	NP_596869.4:p.Leu32222Pro
NM_133432.3:c.77549T>C (TTN)	NP_597676.3:p.Leu25850Pro
NM_133437.4:c.77750T>C (TTN)	NP_597681.4:p.Leu25917Pro
NR_038271.1:n.446+8610A>G (TTN-AS1)
NR_038272.1:n.220-3486A>G (TTN-AS1)
XM_011511729.1:c.103466T>C (TTN)	XP_011510031.1:p.Leu34489Pro
XM_011511730.1:c.77360T>C (TTN)	XP_011510032.1:p.Leu25787Pro
XM_011511731.1:c.77219T>C (TTN)	XP_011510033.1:p.Leu25740Pro
XM_017004819.1:c.103262T>C (TTN)	XP_016860308.1:p.Leu34421Pro
XM_017004820.1:c.98660T>C (TTN)	XP_016860309.1:p.Leu32887Pro
XM_017004821.1:c.98657T>C (TTN)	XP_016860310.1:p.Leu32886Pro
XM_017004822.1:c.95699T>C (TTN)	XP_016860311.1:p.Leu31900Pro
XM_017004823.1:c.77315T>C (TTN)	XP_016860312.1:p.Leu25772Pro
XM_024453094.1:c.98810T>C (TTN)	XP_024308862.1:p.Leu32937Pro
XM_024453095.1:c.98807T>C (TTN)	XP_024308863.1:p.Leu32936Pro
XM_024453096.1:c.98240T>C (TTN)	XP_024308864.1:p.Leu32747Pro
XM_024453097.1:c.95582T>C (TTN)	XP_024308865.1:p.Leu31861Pro
XM_024453098.1:c.95501T>C (TTN)	XP_024308866.1:p.Leu31834Pro
XM_024453099.1:c.77264T>C (TTN)	XP_024308867.1:p.Leu25755Pro
XM_024453100.1:c.67118T>C (TTN)	XP_024308868.1:p.Leu22373Pro