Canonical Allele Identifier: CA349628123

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1318351282
• gnomAD v2: 2-179435666-G-T
• MyVariant Identifiers: chr2:g.179435666G>T (hg19) ; chr2:g.178570939G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570939G>T , CM000664.2:g.178570939G>T	GRCh38
NC_000002.11:g.179435666G>T , CM000664.1:g.179435666G>T	GRCh37
NC_000002.10:g.179143912G>T	NCBI36
NG_011618.3:g.264864C>A , LRG_391:g.264864C>A
NG_051363.1:g.53113G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67489C>A (TTN)	ENSP00000343764.6:p.His22497Asn
ENST00000342175.11:c.48574C>A (TTN)	ENSP00000340554.6:p.His16192Asn
ENST00000359218.10:c.48373C>A (TTN)	ENSP00000352154.5:p.His16125Asn
ENST00000342175.10:c.48574C>A (TTN)	ENSP00000340554.6:p.His16192Asn
ENST00000342992.10:c.67489C>A (TTN)	ENSP00000343764.6:p.His22497Asn
ENST00000359218.9:c.48373C>A (TTN)	ENSP00000352154.5:p.His16125Asn
ENST00000460472.6:c.47998C>A (TTN)	ENSP00000434586.1:p.His16000Asn
ENST00000589042.5:c.75193C>A (TTN) MANE Select	ENSP00000467141.1:p.His25065Asn
ENST00000591111.5:c.70270C>A (TTN)	ENSP00000465570.1:p.His23424Asn
ENST00000615779.4:c.70270C>A (TTN)	ENSP00000483597.1:p.His23424Asn
NM_001256850.1:c.70270C>A (TTN)	NP_001243779.1:p.His23424Asn
NM_001267550.2:c.75193C>A (TTN) MANE Select	NP_001254479.2:p.His25065Asn
NM_003319.4:c.47998C>A (TTN)	NP_003310.4:p.His16000Asn
NM_133378.4:c.67489C>A (TTN)	NP_596869.4:p.His22497Asn
NM_133432.3:c.48373C>A (TTN)	NP_597676.3:p.His16125Asn
NM_133437.4:c.48574C>A (TTN)	NP_597681.4:p.His16192Asn
NR_038271.1:n.447-361G>T (TTN-AS1)
NR_038272.1:n.2044-11633G>T (TTN-AS1)
XM_011511729.1:c.74290C>A (TTN)	XP_011510031.1:p.His24764Asn
XM_011511730.1:c.48184C>A (TTN)	XP_011510032.1:p.His16062Asn
XM_011511731.1:c.48043C>A (TTN)	XP_011510033.1:p.His16015Asn
XM_017004819.1:c.74086C>A (TTN)	XP_016860308.1:p.His24696Asn
XM_017004820.1:c.69484C>A (TTN)	XP_016860309.1:p.His23162Asn
XM_017004821.1:c.69481C>A (TTN)	XP_016860310.1:p.His23161Asn
XM_017004822.1:c.66523C>A (TTN)	XP_016860311.1:p.His22175Asn
XM_017004823.1:c.48139C>A (TTN)	XP_016860312.1:p.His16047Asn
XM_024453094.1:c.69634C>A (TTN)	XP_024308862.1:p.His23212Asn
XM_024453095.1:c.69631C>A (TTN)	XP_024308863.1:p.His23211Asn
XM_024453096.1:c.69064C>A (TTN)	XP_024308864.1:p.His23022Asn
XM_024453097.1:c.66406C>A (TTN)	XP_024308865.1:p.His22136Asn
XM_024453098.1:c.66325C>A (TTN)	XP_024308866.1:p.His22109Asn
XM_024453099.1:c.48088C>A (TTN)	XP_024308867.1:p.His16030Asn
XM_024453100.1:c.37942C>A (TTN)	XP_024308868.1:p.His12648Asn