Canonical Allele Identifier: CA349425392

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179400894A>C (hg19) ; chr2:g.178536167A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178536167A>C , CM000664.2:g.178536167A>C	GRCh38
NC_000002.11:g.179400894A>C , CM000664.1:g.179400894A>C	GRCh37
NC_000002.10:g.179109140A>C	NCBI36
NG_011618.3:g.299636T>G , LRG_391:g.299636T>G
NG_051363.1:g.18341A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92876T>G (TTN)	ENSP00000343764.6:p.Val30959Gly
ENST00000342175.11:c.73961T>G (TTN)	ENSP00000340554.6:p.Val24654Gly
ENST00000359218.10:c.73760T>G (TTN)	ENSP00000352154.5:p.Val24587Gly
ENST00000342175.10:c.73961T>G (TTN)	ENSP00000340554.6:p.Val24654Gly
ENST00000342992.10:c.92876T>G (TTN)	ENSP00000343764.6:p.Val30959Gly
ENST00000359218.9:c.73760T>G (TTN)	ENSP00000352154.5:p.Val24587Gly
ENST00000460472.6:c.73385T>G (TTN)	ENSP00000434586.1:p.Val24462Gly
ENST00000589042.5:c.100580T>G (TTN) MANE Select	ENSP00000467141.1:p.Val33527Gly
ENST00000591111.5:c.95657T>G (TTN)	ENSP00000465570.1:p.Val31886Gly
ENST00000615779.4:c.95657T>G (TTN)	ENSP00000483597.1:p.Val31886Gly
NM_001256850.1:c.95657T>G (TTN)	NP_001243779.1:p.Val31886Gly
NM_001267550.2:c.100580T>G (TTN) MANE Select	NP_001254479.2:p.Val33527Gly
NM_003319.4:c.73385T>G (TTN)	NP_003310.4:p.Val24462Gly
NM_133378.4:c.92876T>G (TTN)	NP_596869.4:p.Val30959Gly
NM_133432.3:c.73760T>G (TTN)	NP_597676.3:p.Val24587Gly
NM_133437.4:c.73961T>G (TTN)	NP_597681.4:p.Val24654Gly
NR_038271.1:n.446+12531A>C (TTN-AS1)
NR_038272.1:n.316+339A>C (TTN-AS1)
XM_011511729.1:c.99677T>G (TTN)	XP_011510031.1:p.Val33226Gly
XM_011511730.1:c.73571T>G (TTN)	XP_011510032.1:p.Val24524Gly
XM_011511731.1:c.73430T>G (TTN)	XP_011510033.1:p.Val24477Gly
XM_017004819.1:c.99473T>G (TTN)	XP_016860308.1:p.Val33158Gly
XM_017004820.1:c.94871T>G (TTN)	XP_016860309.1:p.Val31624Gly
XM_017004821.1:c.94868T>G (TTN)	XP_016860310.1:p.Val31623Gly
XM_017004822.1:c.91910T>G (TTN)	XP_016860311.1:p.Val30637Gly
XM_017004823.1:c.73526T>G (TTN)	XP_016860312.1:p.Val24509Gly
XM_024453094.1:c.95021T>G (TTN)	XP_024308862.1:p.Val31674Gly
XM_024453095.1:c.95018T>G (TTN)	XP_024308863.1:p.Val31673Gly
XM_024453096.1:c.94451T>G (TTN)	XP_024308864.1:p.Val31484Gly
XM_024453097.1:c.91793T>G (TTN)	XP_024308865.1:p.Val30598Gly
XM_024453098.1:c.91712T>G (TTN)	XP_024308866.1:p.Val30571Gly
XM_024453099.1:c.73475T>G (TTN)	XP_024308867.1:p.Val24492Gly
XM_024453100.1:c.63329T>G (TTN)	XP_024308868.1:p.Val21110Gly