Canonical Allele Identifier: CA349411715

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396896C>G (hg19) ; chr2:g.178532169C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532169C>G , CM000664.2:g.178532169C>G	GRCh38
NC_000002.11:g.179396896C>G , CM000664.1:g.179396896C>G	GRCh37
NC_000002.10:g.179105142C>G	NCBI36
NG_011618.3:g.303634G>C , LRG_391:g.303634G>C
NG_051363.1:g.14343C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96742G>C (TTN)	ENSP00000343764.6:p.Glu32248Gln
ENST00000342175.11:c.77827G>C (TTN)	ENSP00000340554.6:p.Glu25943Gln
ENST00000359218.10:c.77626G>C (TTN)	ENSP00000352154.5:p.Glu25876Gln
ENST00000342175.10:c.77827G>C (TTN)	ENSP00000340554.6:p.Glu25943Gln
ENST00000342992.10:c.96742G>C (TTN)	ENSP00000343764.6:p.Glu32248Gln
ENST00000359218.9:c.77626G>C (TTN)	ENSP00000352154.5:p.Glu25876Gln
ENST00000460472.6:c.77251G>C (TTN)	ENSP00000434586.1:p.Glu25751Gln
ENST00000589042.5:c.104446G>C (TTN) MANE Select	ENSP00000467141.1:p.Glu34816Gln
ENST00000591111.5:c.99523G>C (TTN)	ENSP00000465570.1:p.Glu33175Gln
ENST00000615779.4:c.99523G>C (TTN)	ENSP00000483597.1:p.Glu33175Gln
NM_001256850.1:c.99523G>C (TTN)	NP_001243779.1:p.Glu33175Gln
NM_001267550.2:c.104446G>C (TTN) MANE Select	NP_001254479.2:p.Glu34816Gln
NM_003319.4:c.77251G>C (TTN)	NP_003310.4:p.Glu25751Gln
NM_133378.4:c.96742G>C (TTN)	NP_596869.4:p.Glu32248Gln
NM_133432.3:c.77626G>C (TTN)	NP_597676.3:p.Glu25876Gln
NM_133437.4:c.77827G>C (TTN)	NP_597681.4:p.Glu25943Gln
NR_038271.1:n.446+8533C>G (TTN-AS1)
NR_038272.1:n.220-3563C>G (TTN-AS1)
XM_011511729.1:c.103543G>C (TTN)	XP_011510031.1:p.Glu34515Gln
XM_011511730.1:c.77437G>C (TTN)	XP_011510032.1:p.Glu25813Gln
XM_011511731.1:c.77296G>C (TTN)	XP_011510033.1:p.Glu25766Gln
XM_017004819.1:c.103339G>C (TTN)	XP_016860308.1:p.Glu34447Gln
XM_017004820.1:c.98737G>C (TTN)	XP_016860309.1:p.Glu32913Gln
XM_017004821.1:c.98734G>C (TTN)	XP_016860310.1:p.Glu32912Gln
XM_017004822.1:c.95776G>C (TTN)	XP_016860311.1:p.Glu31926Gln
XM_017004823.1:c.77392G>C (TTN)	XP_016860312.1:p.Glu25798Gln
XM_024453094.1:c.98887G>C (TTN)	XP_024308862.1:p.Glu32963Gln
XM_024453095.1:c.98884G>C (TTN)	XP_024308863.1:p.Glu32962Gln
XM_024453096.1:c.98317G>C (TTN)	XP_024308864.1:p.Glu32773Gln
XM_024453097.1:c.95659G>C (TTN)	XP_024308865.1:p.Glu31887Gln
XM_024453098.1:c.95578G>C (TTN)	XP_024308866.1:p.Glu31860Gln
XM_024453099.1:c.77341G>C (TTN)	XP_024308867.1:p.Glu25781Gln
XM_024453100.1:c.67195G>C (TTN)	XP_024308868.1:p.Glu22399Gln