Canonical Allele Identifier: CA349600982

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179432036T>G (hg19) ; chr2:g.178567309T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567309T>G , CM000664.2:g.178567309T>G	GRCh38
NC_000002.11:g.179432036T>G , CM000664.1:g.179432036T>G	GRCh37
NC_000002.10:g.179140282T>G	NCBI36
NG_011618.3:g.268494A>C , LRG_391:g.268494A>C
NG_051363.1:g.49483T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.71119A>C (TTN)	ENSP00000343764.6:p.Lys23707Gln
ENST00000342175.11:c.52204A>C (TTN)	ENSP00000340554.6:p.Lys17402Gln
ENST00000359218.10:c.52003A>C (TTN)	ENSP00000352154.5:p.Lys17335Gln
ENST00000342175.10:c.52204A>C (TTN)	ENSP00000340554.6:p.Lys17402Gln
ENST00000342992.10:c.71119A>C (TTN)	ENSP00000343764.6:p.Lys23707Gln
ENST00000359218.9:c.52003A>C (TTN)	ENSP00000352154.5:p.Lys17335Gln
ENST00000460472.6:c.51628A>C (TTN)	ENSP00000434586.1:p.Lys17210Gln
ENST00000589042.5:c.78823A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys26275Gln
ENST00000591111.5:c.73900A>C (TTN)	ENSP00000465570.1:p.Lys24634Gln
ENST00000615779.4:c.73900A>C (TTN)	ENSP00000483597.1:p.Lys24634Gln
NM_001256850.1:c.73900A>C (TTN)	NP_001243779.1:p.Lys24634Gln
NM_001267550.2:c.78823A>C (TTN) MANE Select	NP_001254479.2:p.Lys26275Gln
NM_003319.4:c.51628A>C (TTN)	NP_003310.4:p.Lys17210Gln
NM_133378.4:c.71119A>C (TTN)	NP_596869.4:p.Lys23707Gln
NM_133432.3:c.52003A>C (TTN)	NP_597676.3:p.Lys17335Gln
NM_133437.4:c.52204A>C (TTN)	NP_597681.4:p.Lys17402Gln
NR_038271.1:n.447-3991T>G (TTN-AS1)
NR_038272.1:n.2044-15263T>G (TTN-AS1)
XM_011511729.1:c.77920A>C (TTN)	XP_011510031.1:p.Lys25974Gln
XM_011511730.1:c.51814A>C (TTN)	XP_011510032.1:p.Lys17272Gln
XM_011511731.1:c.51673A>C (TTN)	XP_011510033.1:p.Lys17225Gln
XM_017004819.1:c.77716A>C (TTN)	XP_016860308.1:p.Lys25906Gln
XM_017004820.1:c.73114A>C (TTN)	XP_016860309.1:p.Lys24372Gln
XM_017004821.1:c.73111A>C (TTN)	XP_016860310.1:p.Lys24371Gln
XM_017004822.1:c.70153A>C (TTN)	XP_016860311.1:p.Lys23385Gln
XM_017004823.1:c.51769A>C (TTN)	XP_016860312.1:p.Lys17257Gln
XM_024453094.1:c.73264A>C (TTN)	XP_024308862.1:p.Lys24422Gln
XM_024453095.1:c.73261A>C (TTN)	XP_024308863.1:p.Lys24421Gln
XM_024453096.1:c.72694A>C (TTN)	XP_024308864.1:p.Lys24232Gln
XM_024453097.1:c.70036A>C (TTN)	XP_024308865.1:p.Lys23346Gln
XM_024453098.1:c.69955A>C (TTN)	XP_024308866.1:p.Lys23319Gln
XM_024453099.1:c.51718A>C (TTN)	XP_024308867.1:p.Lys17240Gln
XM_024453100.1:c.41572A>C (TTN)	XP_024308868.1:p.Lys13858Gln