Canonical Allele Identifier: CA349596373

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs794729239
• MyVariant Identifiers: chr2:g.179476636T>G (hg19) ; chr2:g.178611909T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178611909T>G , CM000664.2:g.178611909T>G	GRCh38
NC_000002.11:g.179476636T>G , CM000664.1:g.179476636T>G	GRCh37
NC_000002.10:g.179184881T>G	NCBI36
NG_011618.3:g.223894A>C , LRG_391:g.223894A>C
NG_051363.1:g.94083T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.42696A>C (TTN)	ENSP00000343764.6:p.Lys14232Asn
ENST00000342175.11:c.23781A>C (TTN)	ENSP00000340554.6:p.Lys7927Asn
ENST00000359218.10:c.23580A>C (TTN)	ENSP00000352154.5:p.Lys7860Asn
ENST00000342175.10:c.23781A>C (TTN)	ENSP00000340554.6:p.Lys7927Asn
ENST00000342992.10:c.42696A>C (TTN)	ENSP00000343764.6:p.Lys14232Asn
ENST00000359218.9:c.23580A>C (TTN)	ENSP00000352154.5:p.Lys7860Asn
ENST00000460472.6:c.23205A>C (TTN)	ENSP00000434586.1:p.Lys7735Asn
ENST00000589042.5:c.50400A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys16800Asn
ENST00000591111.5:c.45477A>C (TTN)	ENSP00000465570.1:p.Lys15159Asn
ENST00000615779.4:c.45477A>C (TTN)	ENSP00000483597.1:p.Lys15159Asn
NM_001256850.1:c.45477A>C (TTN)	NP_001243779.1:p.Lys15159Asn
NM_001267550.2:c.50400A>C (TTN) MANE Select	NP_001254479.2:p.Lys16800Asn
NM_003319.4:c.23205A>C (TTN)	NP_003310.4:p.Lys7735Asn
NM_133378.4:c.42696A>C (TTN)	NP_596869.4:p.Lys14232Asn
NM_133432.3:c.23580A>C (TTN)	NP_597676.3:p.Lys7860Asn
NM_133437.4:c.23781A>C (TTN)	NP_597681.4:p.Lys7927Asn
NR_038271.1:n.783-2126T>G (TTN-AS1)
XM_011511729.1:c.49497A>C (TTN)	XP_011510031.1:p.Lys16499Asn
XM_011511730.1:c.23391A>C (TTN)	XP_011510032.1:p.Lys7797Asn
XM_011511731.1:c.23250A>C (TTN)	XP_011510033.1:p.Lys7750Asn
XM_017004819.1:c.49293A>C (TTN)	XP_016860308.1:p.Lys16431Asn
XM_017004820.1:c.44691A>C (TTN)	XP_016860309.1:p.Lys14897Asn
XM_017004821.1:c.44688A>C (TTN)	XP_016860310.1:p.Lys14896Asn
XM_017004822.1:c.41730A>C (TTN)	XP_016860311.1:p.Lys13910Asn
XM_017004823.1:c.23346A>C (TTN)	XP_016860312.1:p.Lys7782Asn
XM_024453094.1:c.44841A>C (TTN)	XP_024308862.1:p.Lys14947Asn
XM_024453095.1:c.44838A>C (TTN)	XP_024308863.1:p.Lys14946Asn
XM_024453096.1:c.44271A>C (TTN)	XP_024308864.1:p.Lys14757Asn
XM_024453097.1:c.41613A>C (TTN)	XP_024308865.1:p.Lys13871Asn
XM_024453098.1:c.41532A>C (TTN)	XP_024308866.1:p.Lys13844Asn
XM_024453099.1:c.23295A>C (TTN)	XP_024308867.1:p.Lys7765Asn
XM_024453100.1:c.13149A>C (TTN)	XP_024308868.1:p.Lys4383Asn