Canonical Allele Identifier: CA538090272

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1402672920
• gnomAD v2: 2-179394788-A-ATG
• MyVariant Identifiers: chr2:g.179394788_179394789insTG (hg19) ; chr2:g.178530061_178530062insTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530061_178530062insTG , CM000664.2:g.178530061_178530062insTG	GRCh38
NC_000002.11:g.179394788_179394789insTG , CM000664.1:g.179394788_179394789insTG	GRCh37
NC_000002.10:g.179103034_179103035insTG	NCBI36
NG_011618.3:g.305741_305742insCA , LRG_391:g.305741_305742insCA
NG_051363.1:g.12235_12236insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98725_98726insCA (TTN)	ENSP00000343764.6:p.Leu32909SerfsTer2
ENST00000342175.11:c.79810_79811insCA (TTN)	ENSP00000340554.6:p.Leu26604SerfsTer2
ENST00000359218.10:c.79609_79610insCA (TTN)	ENSP00000352154.5:p.Leu26537SerfsTer2
ENST00000342175.10:c.79810_79811insCA (TTN)	ENSP00000340554.6:p.Leu26604SerfsTer2
ENST00000342992.10:c.98725_98726insCA (TTN)	ENSP00000343764.6:p.Leu32909SerfsTer2
ENST00000359218.9:c.79609_79610insCA (TTN)	ENSP00000352154.5:p.Leu26537SerfsTer2
ENST00000460472.6:c.79234_79235insCA (TTN)	ENSP00000434586.1:p.Leu26412SerfsTer2
ENST00000589042.5:c.106429_106430insCA (TTN) MANE Select	ENSP00000467141.1:p.Leu35477SerfsTer2
ENST00000591111.5:c.101506_101507insCA (TTN)	ENSP00000465570.1:p.Leu33836SerfsTer2
ENST00000615779.4:c.101506_101507insCA (TTN)	ENSP00000483597.1:p.Leu33836SerfsTer2
NM_001256850.1:c.101506_101507insCA (TTN)	NP_001243779.1:p.Leu33836SerfsTer2
NM_001267550.2:c.106429_106430insCA (TTN) MANE Select	NP_001254479.2:p.Leu35477SerfsTer2
NM_003319.4:c.79234_79235insCA (TTN)	NP_003310.4:p.Leu26412SerfsTer2
NM_133378.4:c.98725_98726insCA (TTN)	NP_596869.4:p.Leu32909SerfsTer2
NM_133432.3:c.79609_79610insCA (TTN)	NP_597676.3:p.Leu26537SerfsTer2
NM_133437.4:c.79810_79811insCA (TTN)	NP_597681.4:p.Leu26604SerfsTer2
NR_038271.1:n.446+6425_446+6426insTG (TTN-AS1)
NR_038272.1:n.220-5671_220-5670insTG (TTN-AS1)
XM_011511729.1:c.105526_105527insCA (TTN)	XP_011510031.1:p.Leu35176SerfsTer2
XM_011511730.1:c.79420_79421insCA (TTN)	XP_011510032.1:p.Leu26474SerfsTer2
XM_011511731.1:c.79279_79280insCA (TTN)	XP_011510033.1:p.Leu26427SerfsTer2
XM_017004819.1:c.105322_105323insCA (TTN)	XP_016860308.1:p.Leu35108SerfsTer2
XM_017004820.1:c.100720_100721insCA (TTN)	XP_016860309.1:p.Leu33574SerfsTer2
XM_017004821.1:c.100717_100718insCA (TTN)	XP_016860310.1:p.Leu33573SerfsTer2
XM_017004822.1:c.97759_97760insCA (TTN)	XP_016860311.1:p.Leu32587SerfsTer2
XM_017004823.1:c.79375_79376insCA (TTN)	XP_016860312.1:p.Leu26459SerfsTer2
XM_024453094.1:c.100870_100871insCA (TTN)	XP_024308862.1:p.Leu33624SerfsTer2
XM_024453095.1:c.100867_100868insCA (TTN)	XP_024308863.1:p.Leu33623SerfsTer2
XM_024453096.1:c.100300_100301insCA (TTN)	XP_024308864.1:p.Leu33434SerfsTer2
XM_024453097.1:c.97642_97643insCA (TTN)	XP_024308865.1:p.Leu32548SerfsTer2
XM_024453098.1:c.97561_97562insCA (TTN)	XP_024308866.1:p.Leu32521SerfsTer2
XM_024453099.1:c.79324_79325insCA (TTN)	XP_024308867.1:p.Leu26442SerfsTer2
XM_024453100.1:c.69178_69179insCA (TTN)	XP_024308868.1:p.Leu23060SerfsTer2