Canonical Allele Identifier: CA349429741

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 466651
• ClinVar RCV Id: RCV000528310 ; RCV002491025 ; RCV002060327
• dbSNP Id: rs1553627403
• gnomAD v4: 2-178582209-C-G
• MyVariant Identifiers: chr2:g.179446936C>G (hg19) ; chr2:g.178582209C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178582209C>G , CM000664.2:g.178582209C>G	GRCh38
NC_000002.11:g.179446936C>G , CM000664.1:g.179446936C>G	GRCh37
NC_000002.10:g.179155182C>G	NCBI36
NG_011618.3:g.253594G>C , LRG_391:g.253594G>C
NG_051363.1:g.64383C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.58457-1G>C (TTN)	ENSP00000343764.6:n.58457-1G>C
ENST00000342175.11:c.39542-1G>C (TTN)	ENSP00000340554.6:n.39542-1G>C
ENST00000359218.10:c.39341-1G>C (TTN)	ENSP00000352154.5:n.39341-1G>C
ENST00000342175.10:c.39542-1G>C (TTN)	ENSP00000340554.6:n.39542-1G>C
ENST00000342992.10:c.58457-1G>C (TTN)	ENSP00000343764.6:n.58457-1G>C
ENST00000359218.9:c.39341-1G>C (TTN)	ENSP00000352154.5:n.39341-1G>C
ENST00000460472.6:c.38966-1G>C (TTN)	ENSP00000434586.1:n.38966-1G>C
ENST00000589042.5:c.66161-1G>C (TTN) MANE Select	ENSP00000467141.1:n.66161-1G>C
ENST00000591111.5:c.61238-1G>C (TTN)	ENSP00000465570.1:n.61238-1G>C
ENST00000615779.4:c.61238-1G>C (TTN)	ENSP00000483597.1:n.61238-1G>C
NM_001256850.1:c.61238-1G>C (TTN)	NP_001243779.1:n.61238-1G>C
NM_001267550.2:c.66161-1G>C (TTN) MANE Select	NP_001254479.2:n.66161-1G>C
NM_003319.4:c.38966-1G>C (TTN)	NP_003310.4:n.38966-1G>C
NM_133378.4:c.58457-1G>C (TTN)	NP_596869.4:n.58457-1G>C
NM_133432.3:c.39341-1G>C (TTN)	NP_597676.3:n.39341-1G>C
NM_133437.4:c.39542-1G>C (TTN)	NP_597681.4:n.39542-1G>C
NR_038271.1:n.596+10760C>G (TTN-AS1)
NR_038272.1:n.2044-363C>G (TTN-AS1)
XM_011511729.1:c.65258-1G>C (TTN)	XP_011510031.1:n.65258-1G>C
XM_011511730.1:c.39152-1G>C (TTN)	XP_011510032.1:n.39152-1G>C
XM_011511731.1:c.39011-1G>C (TTN)	XP_011510033.1:n.39011-1G>C
XM_017004819.1:c.65054-1G>C (TTN)	XP_016860308.1:n.65054-1G>C
XM_017004820.1:c.60452-1G>C (TTN)	XP_016860309.1:n.60452-1G>C
XM_017004821.1:c.60449-1G>C (TTN)	XP_016860310.1:n.60449-1G>C
XM_017004822.1:c.57491-1G>C (TTN)	XP_016860311.1:n.57491-1G>C
XM_017004823.1:c.39107-1G>C (TTN)	XP_016860312.1:n.39107-1G>C
XM_024453094.1:c.60602-1G>C (TTN)	XP_024308862.1:n.60602-1G>C
XM_024453095.1:c.60599-1G>C (TTN)	XP_024308863.1:n.60599-1G>C
XM_024453096.1:c.60032-1G>C (TTN)	XP_024308864.1:n.60032-1G>C
XM_024453097.1:c.57374-1G>C (TTN)	XP_024308865.1:n.57374-1G>C
XM_024453098.1:c.57293-1G>C (TTN)	XP_024308866.1:n.57293-1G>C
XM_024453099.1:c.39056-1G>C (TTN)	XP_024308867.1:n.39056-1G>C
XM_024453100.1:c.28910-1G>C (TTN)	XP_024308868.1:n.28910-1G>C