Canonical Allele Identifier: CA349411842

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396953C>A (hg19) ; chr2:g.178532226C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532226C>A , CM000664.2:g.178532226C>A	GRCh38
NC_000002.11:g.179396953C>A , CM000664.1:g.179396953C>A	GRCh37
NC_000002.10:g.179105199C>A	NCBI36
NG_011618.3:g.303577G>T , LRG_391:g.303577G>T
NG_051363.1:g.14400C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96685G>T (TTN)	ENSP00000343764.6:p.Glu32229Ter
ENST00000342175.11:c.77770G>T (TTN)	ENSP00000340554.6:p.Glu25924Ter
ENST00000359218.10:c.77569G>T (TTN)	ENSP00000352154.5:p.Glu25857Ter
ENST00000342175.10:c.77770G>T (TTN)	ENSP00000340554.6:p.Glu25924Ter
ENST00000342992.10:c.96685G>T (TTN)	ENSP00000343764.6:p.Glu32229Ter
ENST00000359218.9:c.77569G>T (TTN)	ENSP00000352154.5:p.Glu25857Ter
ENST00000460472.6:c.77194G>T (TTN)	ENSP00000434586.1:p.Glu25732Ter
ENST00000589042.5:c.104389G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu34797Ter
ENST00000591111.5:c.99466G>T (TTN)	ENSP00000465570.1:p.Glu33156Ter
ENST00000615779.4:c.99466G>T (TTN)	ENSP00000483597.1:p.Glu33156Ter
NM_001256850.1:c.99466G>T (TTN)	NP_001243779.1:p.Glu33156Ter
NM_001267550.2:c.104389G>T (TTN) MANE Select	NP_001254479.2:p.Glu34797Ter
NM_003319.4:c.77194G>T (TTN)	NP_003310.4:p.Glu25732Ter
NM_133378.4:c.96685G>T (TTN)	NP_596869.4:p.Glu32229Ter
NM_133432.3:c.77569G>T (TTN)	NP_597676.3:p.Glu25857Ter
NM_133437.4:c.77770G>T (TTN)	NP_597681.4:p.Glu25924Ter
NR_038271.1:n.446+8590C>A (TTN-AS1)
NR_038272.1:n.220-3506C>A (TTN-AS1)
XM_011511729.1:c.103486G>T (TTN)	XP_011510031.1:p.Glu34496Ter
XM_011511730.1:c.77380G>T (TTN)	XP_011510032.1:p.Glu25794Ter
XM_011511731.1:c.77239G>T (TTN)	XP_011510033.1:p.Glu25747Ter
XM_017004819.1:c.103282G>T (TTN)	XP_016860308.1:p.Glu34428Ter
XM_017004820.1:c.98680G>T (TTN)	XP_016860309.1:p.Glu32894Ter
XM_017004821.1:c.98677G>T (TTN)	XP_016860310.1:p.Glu32893Ter
XM_017004822.1:c.95719G>T (TTN)	XP_016860311.1:p.Glu31907Ter
XM_017004823.1:c.77335G>T (TTN)	XP_016860312.1:p.Glu25779Ter
XM_024453094.1:c.98830G>T (TTN)	XP_024308862.1:p.Glu32944Ter
XM_024453095.1:c.98827G>T (TTN)	XP_024308863.1:p.Glu32943Ter
XM_024453096.1:c.98260G>T (TTN)	XP_024308864.1:p.Glu32754Ter
XM_024453097.1:c.95602G>T (TTN)	XP_024308865.1:p.Glu31868Ter
XM_024453098.1:c.95521G>T (TTN)	XP_024308866.1:p.Glu31841Ter
XM_024453099.1:c.77284G>T (TTN)	XP_024308867.1:p.Glu25762Ter
XM_024453100.1:c.67138G>T (TTN)	XP_024308868.1:p.Glu22380Ter