Canonical Allele Identifier: CA349612337

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433724C>G (hg19) ; chr2:g.178568997C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568997C>G , CM000664.2:g.178568997C>G	GRCh38
NC_000002.11:g.179433724C>G , CM000664.1:g.179433724C>G	GRCh37
NC_000002.10:g.179141970C>G	NCBI36
NG_011618.3:g.266806G>C , LRG_391:g.266806G>C
NG_051363.1:g.51171C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69431G>C (TTN)	ENSP00000343764.6:p.Arg23144Thr
ENST00000342175.11:c.50516G>C (TTN)	ENSP00000340554.6:p.Arg16839Thr
ENST00000359218.10:c.50315G>C (TTN)	ENSP00000352154.5:p.Arg16772Thr
ENST00000342175.10:c.50516G>C (TTN)	ENSP00000340554.6:p.Arg16839Thr
ENST00000342992.10:c.69431G>C (TTN)	ENSP00000343764.6:p.Arg23144Thr
ENST00000359218.9:c.50315G>C (TTN)	ENSP00000352154.5:p.Arg16772Thr
ENST00000460472.6:c.49940G>C (TTN)	ENSP00000434586.1:p.Arg16647Thr
ENST00000589042.5:c.77135G>C (TTN) MANE Select	ENSP00000467141.1:p.Arg25712Thr
ENST00000591111.5:c.72212G>C (TTN)	ENSP00000465570.1:p.Arg24071Thr
ENST00000615779.4:c.72212G>C (TTN)	ENSP00000483597.1:p.Arg24071Thr
NM_001256850.1:c.72212G>C (TTN)	NP_001243779.1:p.Arg24071Thr
NM_001267550.2:c.77135G>C (TTN) MANE Select	NP_001254479.2:p.Arg25712Thr
NM_003319.4:c.49940G>C (TTN)	NP_003310.4:p.Arg16647Thr
NM_133378.4:c.69431G>C (TTN)	NP_596869.4:p.Arg23144Thr
NM_133432.3:c.50315G>C (TTN)	NP_597676.3:p.Arg16772Thr
NM_133437.4:c.50516G>C (TTN)	NP_597681.4:p.Arg16839Thr
NR_038271.1:n.447-2303C>G (TTN-AS1)
NR_038272.1:n.2044-13575C>G (TTN-AS1)
XM_011511729.1:c.76232G>C (TTN)	XP_011510031.1:p.Arg25411Thr
XM_011511730.1:c.50126G>C (TTN)	XP_011510032.1:p.Arg16709Thr
XM_011511731.1:c.49985G>C (TTN)	XP_011510033.1:p.Arg16662Thr
XM_017004819.1:c.76028G>C (TTN)	XP_016860308.1:p.Arg25343Thr
XM_017004820.1:c.71426G>C (TTN)	XP_016860309.1:p.Arg23809Thr
XM_017004821.1:c.71423G>C (TTN)	XP_016860310.1:p.Arg23808Thr
XM_017004822.1:c.68465G>C (TTN)	XP_016860311.1:p.Arg22822Thr
XM_017004823.1:c.50081G>C (TTN)	XP_016860312.1:p.Arg16694Thr
XM_024453094.1:c.71576G>C (TTN)	XP_024308862.1:p.Arg23859Thr
XM_024453095.1:c.71573G>C (TTN)	XP_024308863.1:p.Arg23858Thr
XM_024453096.1:c.71006G>C (TTN)	XP_024308864.1:p.Arg23669Thr
XM_024453097.1:c.68348G>C (TTN)	XP_024308865.1:p.Arg22783Thr
XM_024453098.1:c.68267G>C (TTN)	XP_024308866.1:p.Arg22756Thr
XM_024453099.1:c.50030G>C (TTN)	XP_024308867.1:p.Arg16677Thr
XM_024453100.1:c.39884G>C (TTN)	XP_024308868.1:p.Arg13295Thr