Canonical Allele Identifier: CA349407238

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395337A>C (hg19) ; chr2:g.178530610A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530610A>C , CM000664.2:g.178530610A>C	GRCh38
NC_000002.11:g.179395337A>C , CM000664.1:g.179395337A>C	GRCh37
NC_000002.10:g.179103583A>C	NCBI36
NG_011618.3:g.305193T>G , LRG_391:g.305193T>G
NG_051363.1:g.12784A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98301T>G (TTN)	ENSP00000343764.6:p.His32767Gln
ENST00000342175.11:c.79386T>G (TTN)	ENSP00000340554.6:p.His26462Gln
ENST00000359218.10:c.79185T>G (TTN)	ENSP00000352154.5:p.His26395Gln
ENST00000342175.10:c.79386T>G (TTN)	ENSP00000340554.6:p.His26462Gln
ENST00000342992.10:c.98301T>G (TTN)	ENSP00000343764.6:p.His32767Gln
ENST00000359218.9:c.79185T>G (TTN)	ENSP00000352154.5:p.His26395Gln
ENST00000460472.6:c.78810T>G (TTN)	ENSP00000434586.1:p.His26270Gln
ENST00000589042.5:c.106005T>G (TTN) MANE Select	ENSP00000467141.1:p.His35335Gln
ENST00000591111.5:c.101082T>G (TTN)	ENSP00000465570.1:p.His33694Gln
ENST00000615779.4:c.101082T>G (TTN)	ENSP00000483597.1:p.His33694Gln
NM_001256850.1:c.101082T>G (TTN)	NP_001243779.1:p.His33694Gln
NM_001267550.2:c.106005T>G (TTN) MANE Select	NP_001254479.2:p.His35335Gln
NM_003319.4:c.78810T>G (TTN)	NP_003310.4:p.His26270Gln
NM_133378.4:c.98301T>G (TTN)	NP_596869.4:p.His32767Gln
NM_133432.3:c.79185T>G (TTN)	NP_597676.3:p.His26395Gln
NM_133437.4:c.79386T>G (TTN)	NP_597681.4:p.His26462Gln
NR_038271.1:n.446+6974A>C (TTN-AS1)
NR_038272.1:n.220-5122A>C (TTN-AS1)
XM_011511729.1:c.105102T>G (TTN)	XP_011510031.1:p.His35034Gln
XM_011511730.1:c.78996T>G (TTN)	XP_011510032.1:p.His26332Gln
XM_011511731.1:c.78855T>G (TTN)	XP_011510033.1:p.His26285Gln
XM_017004819.1:c.104898T>G (TTN)	XP_016860308.1:p.His34966Gln
XM_017004820.1:c.100296T>G (TTN)	XP_016860309.1:p.His33432Gln
XM_017004821.1:c.100293T>G (TTN)	XP_016860310.1:p.His33431Gln
XM_017004822.1:c.97335T>G (TTN)	XP_016860311.1:p.His32445Gln
XM_017004823.1:c.78951T>G (TTN)	XP_016860312.1:p.His26317Gln
XM_024453094.1:c.100446T>G (TTN)	XP_024308862.1:p.His33482Gln
XM_024453095.1:c.100443T>G (TTN)	XP_024308863.1:p.His33481Gln
XM_024453096.1:c.99876T>G (TTN)	XP_024308864.1:p.His33292Gln
XM_024453097.1:c.97218T>G (TTN)	XP_024308865.1:p.His32406Gln
XM_024453098.1:c.97137T>G (TTN)	XP_024308866.1:p.His32379Gln
XM_024453099.1:c.78900T>G (TTN)	XP_024308867.1:p.His26300Gln
XM_024453100.1:c.68754T>G (TTN)	XP_024308868.1:p.His22918Gln