Canonical Allele Identifier: CA349411701

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396890C>T (hg19) ; chr2:g.178532163C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532163C>T , CM000664.2:g.178532163C>T	GRCh38
NC_000002.11:g.179396890C>T , CM000664.1:g.179396890C>T	GRCh37
NC_000002.10:g.179105136C>T	NCBI36
NG_011618.3:g.303640G>A , LRG_391:g.303640G>A
NG_051363.1:g.14337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96748G>A (TTN)	ENSP00000343764.6:p.Glu32250Lys
ENST00000342175.11:c.77833G>A (TTN)	ENSP00000340554.6:p.Glu25945Lys
ENST00000359218.10:c.77632G>A (TTN)	ENSP00000352154.5:p.Glu25878Lys
ENST00000342175.10:c.77833G>A (TTN)	ENSP00000340554.6:p.Glu25945Lys
ENST00000342992.10:c.96748G>A (TTN)	ENSP00000343764.6:p.Glu32250Lys
ENST00000359218.9:c.77632G>A (TTN)	ENSP00000352154.5:p.Glu25878Lys
ENST00000460472.6:c.77257G>A (TTN)	ENSP00000434586.1:p.Glu25753Lys
ENST00000589042.5:c.104452G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu34818Lys
ENST00000591111.5:c.99529G>A (TTN)	ENSP00000465570.1:p.Glu33177Lys
ENST00000615779.4:c.99529G>A (TTN)	ENSP00000483597.1:p.Glu33177Lys
NM_001256850.1:c.99529G>A (TTN)	NP_001243779.1:p.Glu33177Lys
NM_001267550.2:c.104452G>A (TTN) MANE Select	NP_001254479.2:p.Glu34818Lys
NM_003319.4:c.77257G>A (TTN)	NP_003310.4:p.Glu25753Lys
NM_133378.4:c.96748G>A (TTN)	NP_596869.4:p.Glu32250Lys
NM_133432.3:c.77632G>A (TTN)	NP_597676.3:p.Glu25878Lys
NM_133437.4:c.77833G>A (TTN)	NP_597681.4:p.Glu25945Lys
NR_038271.1:n.446+8527C>T (TTN-AS1)
NR_038272.1:n.220-3569C>T (TTN-AS1)
XM_011511729.1:c.103549G>A (TTN)	XP_011510031.1:p.Glu34517Lys
XM_011511730.1:c.77443G>A (TTN)	XP_011510032.1:p.Glu25815Lys
XM_011511731.1:c.77302G>A (TTN)	XP_011510033.1:p.Glu25768Lys
XM_017004819.1:c.103345G>A (TTN)	XP_016860308.1:p.Glu34449Lys
XM_017004820.1:c.98743G>A (TTN)	XP_016860309.1:p.Glu32915Lys
XM_017004821.1:c.98740G>A (TTN)	XP_016860310.1:p.Glu32914Lys
XM_017004822.1:c.95782G>A (TTN)	XP_016860311.1:p.Glu31928Lys
XM_017004823.1:c.77398G>A (TTN)	XP_016860312.1:p.Glu25800Lys
XM_024453094.1:c.98893G>A (TTN)	XP_024308862.1:p.Glu32965Lys
XM_024453095.1:c.98890G>A (TTN)	XP_024308863.1:p.Glu32964Lys
XM_024453096.1:c.98323G>A (TTN)	XP_024308864.1:p.Glu32775Lys
XM_024453097.1:c.95665G>A (TTN)	XP_024308865.1:p.Glu31889Lys
XM_024453098.1:c.95584G>A (TTN)	XP_024308866.1:p.Glu31862Lys
XM_024453099.1:c.77347G>A (TTN)	XP_024308867.1:p.Glu25783Lys
XM_024453100.1:c.67201G>A (TTN)	XP_024308868.1:p.Glu22401Lys