Canonical Allele Identifier: CA349411730

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM99031
• MyVariant Identifiers: chr2:g.179396902C>T (hg19) ; chr2:g.178532175C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532175C>T , CM000664.2:g.178532175C>T	GRCh38
NC_000002.11:g.179396902C>T , CM000664.1:g.179396902C>T	GRCh37
NC_000002.10:g.179105148C>T	NCBI36
NG_011618.3:g.303628G>A , LRG_391:g.303628G>A
NG_051363.1:g.14349C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96736G>A (TTN)	ENSP00000343764.6:p.Glu32246Lys
ENST00000342175.11:c.77821G>A (TTN)	ENSP00000340554.6:p.Glu25941Lys
ENST00000359218.10:c.77620G>A (TTN)	ENSP00000352154.5:p.Glu25874Lys
ENST00000342175.10:c.77821G>A (TTN)	ENSP00000340554.6:p.Glu25941Lys
ENST00000342992.10:c.96736G>A (TTN)	ENSP00000343764.6:p.Glu32246Lys
ENST00000359218.9:c.77620G>A (TTN)	ENSP00000352154.5:p.Glu25874Lys
ENST00000460472.6:c.77245G>A (TTN)	ENSP00000434586.1:p.Glu25749Lys
ENST00000589042.5:c.104440G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu34814Lys
ENST00000591111.5:c.99517G>A (TTN)	ENSP00000465570.1:p.Glu33173Lys
ENST00000615779.4:c.99517G>A (TTN)	ENSP00000483597.1:p.Glu33173Lys
NM_001256850.1:c.99517G>A (TTN)	NP_001243779.1:p.Glu33173Lys
NM_001267550.2:c.104440G>A (TTN) MANE Select	NP_001254479.2:p.Glu34814Lys
NM_003319.4:c.77245G>A (TTN)	NP_003310.4:p.Glu25749Lys
NM_133378.4:c.96736G>A (TTN)	NP_596869.4:p.Glu32246Lys
NM_133432.3:c.77620G>A (TTN)	NP_597676.3:p.Glu25874Lys
NM_133437.4:c.77821G>A (TTN)	NP_597681.4:p.Glu25941Lys
NR_038271.1:n.446+8539C>T (TTN-AS1)
NR_038272.1:n.220-3557C>T (TTN-AS1)
XM_011511729.1:c.103537G>A (TTN)	XP_011510031.1:p.Glu34513Lys
XM_011511730.1:c.77431G>A (TTN)	XP_011510032.1:p.Glu25811Lys
XM_011511731.1:c.77290G>A (TTN)	XP_011510033.1:p.Glu25764Lys
XM_017004819.1:c.103333G>A (TTN)	XP_016860308.1:p.Glu34445Lys
XM_017004820.1:c.98731G>A (TTN)	XP_016860309.1:p.Glu32911Lys
XM_017004821.1:c.98728G>A (TTN)	XP_016860310.1:p.Glu32910Lys
XM_017004822.1:c.95770G>A (TTN)	XP_016860311.1:p.Glu31924Lys
XM_017004823.1:c.77386G>A (TTN)	XP_016860312.1:p.Glu25796Lys
XM_024453094.1:c.98881G>A (TTN)	XP_024308862.1:p.Glu32961Lys
XM_024453095.1:c.98878G>A (TTN)	XP_024308863.1:p.Glu32960Lys
XM_024453096.1:c.98311G>A (TTN)	XP_024308864.1:p.Glu32771Lys
XM_024453097.1:c.95653G>A (TTN)	XP_024308865.1:p.Glu31885Lys
XM_024453098.1:c.95572G>A (TTN)	XP_024308866.1:p.Glu31858Lys
XM_024453099.1:c.77335G>A (TTN)	XP_024308867.1:p.Glu25779Lys
XM_024453100.1:c.67189G>A (TTN)	XP_024308868.1:p.Glu22397Lys