Canonical Allele Identifier: CA1985169

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1394301
• ClinVar RCV Id: RCV001884767
• dbSNP Id: rs780037060
• ExAC: 2:179395285 C / G
• gnomAD v2: 2-179395285-C-G
• gnomAD v4: 2-178530558-C-G
• MyVariant Identifiers: chr2:g.179395285C>G (hg19) ; chr2:g.178530558C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530558C>G , CM000664.2:g.178530558C>G	GRCh38
NC_000002.11:g.179395285C>G , CM000664.1:g.179395285C>G	GRCh37
NC_000002.10:g.179103531C>G	NCBI36
NG_011618.3:g.305245G>C , LRG_391:g.305245G>C
NG_051363.1:g.12732C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98353G>C (TTN)	ENSP00000343764.6:p.Asp32785His
ENST00000342175.11:c.79438G>C (TTN)	ENSP00000340554.6:p.Asp26480His
ENST00000359218.10:c.79237G>C (TTN)	ENSP00000352154.5:p.Asp26413His
ENST00000342175.10:c.79438G>C (TTN)	ENSP00000340554.6:p.Asp26480His
ENST00000342992.10:c.98353G>C (TTN)	ENSP00000343764.6:p.Asp32785His
ENST00000359218.9:c.79237G>C (TTN)	ENSP00000352154.5:p.Asp26413His
ENST00000460472.6:c.78862G>C (TTN)	ENSP00000434586.1:p.Asp26288His
ENST00000589042.5:c.106057G>C (TTN) MANE Select	ENSP00000467141.1:p.Asp35353His
ENST00000591111.5:c.101134G>C (TTN)	ENSP00000465570.1:p.Asp33712His
ENST00000615779.4:c.101134G>C (TTN)	ENSP00000483597.1:p.Asp33712His
NM_001256850.1:c.101134G>C (TTN)	NP_001243779.1:p.Asp33712His
NM_001267550.2:c.106057G>C (TTN) MANE Select	NP_001254479.2:p.Asp35353His
NM_003319.4:c.78862G>C (TTN)	NP_003310.4:p.Asp26288His
NM_133378.4:c.98353G>C (TTN)	NP_596869.4:p.Asp32785His
NM_133432.3:c.79237G>C (TTN)	NP_597676.3:p.Asp26413His
NM_133437.4:c.79438G>C (TTN)	NP_597681.4:p.Asp26480His
NR_038271.1:n.446+6922C>G (TTN-AS1)
NR_038272.1:n.220-5174C>G (TTN-AS1)
XM_011511729.1:c.105154G>C (TTN)	XP_011510031.1:p.Asp35052His
XM_011511730.1:c.79048G>C (TTN)	XP_011510032.1:p.Asp26350His
XM_011511731.1:c.78907G>C (TTN)	XP_011510033.1:p.Asp26303His
XM_017004819.1:c.104950G>C (TTN)	XP_016860308.1:p.Asp34984His
XM_017004820.1:c.100348G>C (TTN)	XP_016860309.1:p.Asp33450His
XM_017004821.1:c.100345G>C (TTN)	XP_016860310.1:p.Asp33449His
XM_017004822.1:c.97387G>C (TTN)	XP_016860311.1:p.Asp32463His
XM_017004823.1:c.79003G>C (TTN)	XP_016860312.1:p.Asp26335His
XM_024453094.1:c.100498G>C (TTN)	XP_024308862.1:p.Asp33500His
XM_024453095.1:c.100495G>C (TTN)	XP_024308863.1:p.Asp33499His
XM_024453096.1:c.99928G>C (TTN)	XP_024308864.1:p.Asp33310His
XM_024453097.1:c.97270G>C (TTN)	XP_024308865.1:p.Asp32424His
XM_024453098.1:c.97189G>C (TTN)	XP_024308866.1:p.Asp32397His
XM_024453099.1:c.78952G>C (TTN)	XP_024308867.1:p.Asp26318His
XM_024453100.1:c.68806G>C (TTN)	XP_024308868.1:p.Asp22936His