Canonical Allele Identifier: CA273614

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 179336
• ClinVar RCV Id: RCV000156125 ; RCV000770016 ; RCV002426753 ; RCV003229813 ; RCV002516148
• dbSNP Id: rs727504799
• gnomAD v4: 2-178609683-C-G
• MyVariant Identifiers: chr2:g.179474410C>G (hg19) ; chr2:g.178609683C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178609683C>G , CM000664.2:g.178609683C>G	GRCh38
NC_000002.11:g.179474410C>G , CM000664.1:g.179474410C>G	GRCh37
NC_000002.10:g.179182655C>G	NCBI36
NG_011618.3:g.226120G>C , LRG_391:g.226120G>C
NG_051363.1:g.91857C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.44035+1G>C (TTN)	ENSP00000343764.6:n.44035+1G>C
ENST00000342175.11:c.25120+1G>C (TTN)	ENSP00000340554.6:n.25120+1G>C
ENST00000359218.10:c.24919+1G>C (TTN)	ENSP00000352154.5:n.24919+1G>C
ENST00000342175.10:c.25120+1G>C (TTN)	ENSP00000340554.6:n.25120+1G>C
ENST00000342992.10:c.44035+1G>C (TTN)	ENSP00000343764.6:n.44035+1G>C
ENST00000359218.9:c.24919+1G>C (TTN)	ENSP00000352154.5:n.24919+1G>C
ENST00000460472.6:c.24544+1G>C (TTN)	ENSP00000434586.1:n.24544+1G>C
ENST00000589042.5:c.51739+1G>C (TTN) MANE Select	ENSP00000467141.1:n.51739+1G>C
ENST00000591111.5:c.46816+1G>C (TTN)	ENSP00000465570.1:n.46816+1G>C
ENST00000615779.4:c.46816+1G>C (TTN)	ENSP00000483597.1:n.46816+1G>C
NM_001256850.1:c.46816+1G>C (TTN)	NP_001243779.1:n.46816+1G>C
NM_001267550.2:c.51739+1G>C (TTN) MANE Select	NP_001254479.2:n.51739+1G>C
NM_003319.4:c.24544+1G>C (TTN)	NP_003310.4:n.24544+1G>C
NM_133378.4:c.44035+1G>C (TTN)	NP_596869.4:n.44035+1G>C
NM_133432.3:c.24919+1G>C (TTN)	NP_597676.3:n.24919+1G>C
NM_133437.4:c.25120+1G>C (TTN)	NP_597681.4:n.25120+1G>C
NR_038271.1:n.782+1417C>G (TTN-AS1)
XM_011511729.1:c.50836+1G>C (TTN)	XP_011510031.1:n.50836+1G>C
XM_011511730.1:c.24730+1G>C (TTN)	XP_011510032.1:n.24730+1G>C
XM_011511731.1:c.24589+1G>C (TTN)	XP_011510033.1:n.24589+1G>C
XM_017004819.1:c.50632+1G>C (TTN)	XP_016860308.1:n.50632+1G>C
XM_017004820.1:c.46030+1G>C (TTN)	XP_016860309.1:n.46030+1G>C
XM_017004821.1:c.46027+1G>C (TTN)	XP_016860310.1:n.46027+1G>C
XM_017004822.1:c.43069+1G>C (TTN)	XP_016860311.1:n.43069+1G>C
XM_017004823.1:c.24685+1G>C (TTN)	XP_016860312.1:n.24685+1G>C
XM_024453094.1:c.46180+1G>C (TTN)	XP_024308862.1:n.46180+1G>C
XM_024453095.1:c.46177+1G>C (TTN)	XP_024308863.1:n.46177+1G>C
XM_024453096.1:c.45610+1G>C (TTN)	XP_024308864.1:n.45610+1G>C
XM_024453097.1:c.42952+1G>C (TTN)	XP_024308865.1:n.42952+1G>C
XM_024453098.1:c.42871+1G>C (TTN)	XP_024308866.1:n.42871+1G>C
XM_024453099.1:c.24634+1G>C (TTN)	XP_024308867.1:n.24634+1G>C
XM_024453100.1:c.14488+1G>C (TTN)	XP_024308868.1:n.14488+1G>C