Canonical Allele Identifier: CA349564269

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179427041T>G (hg19) ; chr2:g.178562314T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178562314T>G , CM000664.2:g.178562314T>G	GRCh38
NC_000002.11:g.179427041T>G , CM000664.1:g.179427041T>G	GRCh37
NC_000002.10:g.179135287T>G	NCBI36
NG_011618.3:g.273489A>C , LRG_391:g.273489A>C
NG_051363.1:g.44488T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.76114A>C (TTN)	ENSP00000343764.6:p.Asn25372His
ENST00000342175.11:c.57199A>C (TTN)	ENSP00000340554.6:p.Asn19067His
ENST00000359218.10:c.56998A>C (TTN)	ENSP00000352154.5:p.Asn19000His
ENST00000342175.10:c.57199A>C (TTN)	ENSP00000340554.6:p.Asn19067His
ENST00000342992.10:c.76114A>C (TTN)	ENSP00000343764.6:p.Asn25372His
ENST00000359218.9:c.56998A>C (TTN)	ENSP00000352154.5:p.Asn19000His
ENST00000460472.6:c.56623A>C (TTN)	ENSP00000434586.1:p.Asn18875His
ENST00000589042.5:c.83818A>C (TTN) MANE Select	ENSP00000467141.1:p.Asn27940His
ENST00000591111.5:c.78895A>C (TTN)	ENSP00000465570.1:p.Asn26299His
ENST00000615779.4:c.78895A>C (TTN)	ENSP00000483597.1:p.Asn26299His
NM_001256850.1:c.78895A>C (TTN)	NP_001243779.1:p.Asn26299His
NM_001267550.2:c.83818A>C (TTN) MANE Select	NP_001254479.2:p.Asn27940His
NM_003319.4:c.56623A>C (TTN)	NP_003310.4:p.Asn18875His
NM_133378.4:c.76114A>C (TTN)	NP_596869.4:p.Asn25372His
NM_133432.3:c.56998A>C (TTN)	NP_597676.3:p.Asn19000His
NM_133437.4:c.57199A>C (TTN)	NP_597681.4:p.Asn19067His
NR_038271.1:n.447-8986T>G (TTN-AS1)
NR_038272.1:n.2043+19953T>G (TTN-AS1)
XM_011511729.1:c.82915A>C (TTN)	XP_011510031.1:p.Asn27639His
XM_011511730.1:c.56809A>C (TTN)	XP_011510032.1:p.Asn18937His
XM_011511731.1:c.56668A>C (TTN)	XP_011510033.1:p.Asn18890His
XM_017004819.1:c.82711A>C (TTN)	XP_016860308.1:p.Asn27571His
XM_017004820.1:c.78109A>C (TTN)	XP_016860309.1:p.Asn26037His
XM_017004821.1:c.78106A>C (TTN)	XP_016860310.1:p.Asn26036His
XM_017004822.1:c.75148A>C (TTN)	XP_016860311.1:p.Asn25050His
XM_017004823.1:c.56764A>C (TTN)	XP_016860312.1:p.Asn18922His
XM_024453094.1:c.78259A>C (TTN)	XP_024308862.1:p.Asn26087His
XM_024453095.1:c.78256A>C (TTN)	XP_024308863.1:p.Asn26086His
XM_024453096.1:c.77689A>C (TTN)	XP_024308864.1:p.Asn25897His
XM_024453097.1:c.75031A>C (TTN)	XP_024308865.1:p.Asn25011His
XM_024453098.1:c.74950A>C (TTN)	XP_024308866.1:p.Asn24984His
XM_024453099.1:c.56713A>C (TTN)	XP_024308867.1:p.Asn18905His
XM_024453100.1:c.46567A>C (TTN)	XP_024308868.1:p.Asn15523His