Canonical Allele Identifier: CA349457264

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409143C>A (hg19) ; chr2:g.178544416C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544416C>A , CM000664.2:g.178544416C>A	GRCh38
NC_000002.11:g.179409143C>A , CM000664.1:g.179409143C>A	GRCh37
NC_000002.10:g.179117389C>A	NCBI36
NG_011618.3:g.291387G>T , LRG_391:g.291387G>T
NG_051363.1:g.26590C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88109G>T (TTN)	ENSP00000343764.6:p.Gly29370Val
ENST00000342175.11:c.69194G>T (TTN)	ENSP00000340554.6:p.Gly23065Val
ENST00000359218.10:c.68993G>T (TTN)	ENSP00000352154.5:p.Gly22998Val
ENST00000342175.10:c.69194G>T (TTN)	ENSP00000340554.6:p.Gly23065Val
ENST00000342992.10:c.88109G>T (TTN)	ENSP00000343764.6:p.Gly29370Val
ENST00000359218.9:c.68993G>T (TTN)	ENSP00000352154.5:p.Gly22998Val
ENST00000460472.6:c.68618G>T (TTN)	ENSP00000434586.1:p.Gly22873Val
ENST00000589042.5:c.95813G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly31938Val
ENST00000591111.5:c.90890G>T (TTN)	ENSP00000465570.1:p.Gly30297Val
ENST00000615779.4:c.90890G>T (TTN)	ENSP00000483597.1:p.Gly30297Val
NM_001256850.1:c.90890G>T (TTN)	NP_001243779.1:p.Gly30297Val
NM_001267550.2:c.95813G>T (TTN) MANE Select	NP_001254479.2:p.Gly31938Val
NM_003319.4:c.68618G>T (TTN)	NP_003310.4:p.Gly22873Val
NM_133378.4:c.88109G>T (TTN)	NP_596869.4:p.Gly29370Val
NM_133432.3:c.68993G>T (TTN)	NP_597676.3:p.Gly22998Val
NM_133437.4:c.69194G>T (TTN)	NP_597681.4:p.Gly23065Val
NR_038271.1:n.446+20780C>A (TTN-AS1)
NR_038272.1:n.2043+2055C>A (TTN-AS1)
XM_011511729.1:c.94910G>T (TTN)	XP_011510031.1:p.Gly31637Val
XM_011511730.1:c.68804G>T (TTN)	XP_011510032.1:p.Gly22935Val
XM_011511731.1:c.68663G>T (TTN)	XP_011510033.1:p.Gly22888Val
XM_017004819.1:c.94706G>T (TTN)	XP_016860308.1:p.Gly31569Val
XM_017004820.1:c.90104G>T (TTN)	XP_016860309.1:p.Gly30035Val
XM_017004821.1:c.90101G>T (TTN)	XP_016860310.1:p.Gly30034Val
XM_017004822.1:c.87143G>T (TTN)	XP_016860311.1:p.Gly29048Val
XM_017004823.1:c.68759G>T (TTN)	XP_016860312.1:p.Gly22920Val
XM_024453094.1:c.90254G>T (TTN)	XP_024308862.1:p.Gly30085Val
XM_024453095.1:c.90251G>T (TTN)	XP_024308863.1:p.Gly30084Val
XM_024453096.1:c.89684G>T (TTN)	XP_024308864.1:p.Gly29895Val
XM_024453097.1:c.87026G>T (TTN)	XP_024308865.1:p.Gly29009Val
XM_024453098.1:c.86945G>T (TTN)	XP_024308866.1:p.Gly28982Val
XM_024453099.1:c.68708G>T (TTN)	XP_024308867.1:p.Gly22903Val
XM_024453100.1:c.58562G>T (TTN)	XP_024308868.1:p.Gly19521Val