Canonical Allele Identifier: CA349435939

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2048514000
• gnomAD v4: 2-178584567-C-T
• MyVariant Identifiers: chr2:g.179449294C>T (hg19) ; chr2:g.178584567C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584567C>T , CM000664.2:g.178584567C>T	GRCh38
NC_000002.11:g.179449294C>T , CM000664.1:g.179449294C>T	GRCh37
NC_000002.10:g.179157540C>T	NCBI36
NG_011618.3:g.251236G>A , LRG_391:g.251236G>A
NG_051363.1:g.66741C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.57280G>A (TTN)	ENSP00000343764.6:p.Glu19094Lys
ENST00000342175.11:c.38365G>A (TTN)	ENSP00000340554.6:p.Glu12789Lys
ENST00000359218.10:c.38164G>A (TTN)	ENSP00000352154.5:p.Glu12722Lys
ENST00000342175.10:c.38365G>A (TTN)	ENSP00000340554.6:p.Glu12789Lys
ENST00000342992.10:c.57280G>A (TTN)	ENSP00000343764.6:p.Glu19094Lys
ENST00000359218.9:c.38164G>A (TTN)	ENSP00000352154.5:p.Glu12722Lys
ENST00000460472.6:c.37789G>A (TTN)	ENSP00000434586.1:p.Glu12597Lys
ENST00000589042.5:c.64984G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu21662Lys
ENST00000591111.5:c.60061G>A (TTN)	ENSP00000465570.1:p.Glu20021Lys
ENST00000615779.4:c.60061G>A (TTN)	ENSP00000483597.1:p.Glu20021Lys
NM_001256850.1:c.60061G>A (TTN)	NP_001243779.1:p.Glu20021Lys
NM_001267550.2:c.64984G>A (TTN) MANE Select	NP_001254479.2:p.Glu21662Lys
NM_003319.4:c.37789G>A (TTN)	NP_003310.4:p.Glu12597Lys
NM_133378.4:c.57280G>A (TTN)	NP_596869.4:p.Glu19094Lys
NM_133432.3:c.38164G>A (TTN)	NP_597676.3:p.Glu12722Lys
NM_133437.4:c.38365G>A (TTN)	NP_597681.4:p.Glu12789Lys
NR_038271.1:n.597-13029C>T (TTN-AS1)
NR_038272.1:n.2768-6C>T (TTN-AS1)
XM_011511729.1:c.64081G>A (TTN)	XP_011510031.1:p.Glu21361Lys
XM_011511730.1:c.37975G>A (TTN)	XP_011510032.1:p.Glu12659Lys
XM_011511731.1:c.37834G>A (TTN)	XP_011510033.1:p.Glu12612Lys
XM_017004819.1:c.63877G>A (TTN)	XP_016860308.1:p.Glu21293Lys
XM_017004820.1:c.59275G>A (TTN)	XP_016860309.1:p.Glu19759Lys
XM_017004821.1:c.59272G>A (TTN)	XP_016860310.1:p.Glu19758Lys
XM_017004822.1:c.56314G>A (TTN)	XP_016860311.1:p.Glu18772Lys
XM_017004823.1:c.37930G>A (TTN)	XP_016860312.1:p.Glu12644Lys
XM_024453094.1:c.59425G>A (TTN)	XP_024308862.1:p.Glu19809Lys
XM_024453095.1:c.59422G>A (TTN)	XP_024308863.1:p.Glu19808Lys
XM_024453096.1:c.58855G>A (TTN)	XP_024308864.1:p.Glu19619Lys
XM_024453097.1:c.56197G>A (TTN)	XP_024308865.1:p.Glu18733Lys
XM_024453098.1:c.56116G>A (TTN)	XP_024308866.1:p.Glu18706Lys
XM_024453099.1:c.37879G>A (TTN)	XP_024308867.1:p.Glu12627Lys
XM_024453100.1:c.27733G>A (TTN)	XP_024308868.1:p.Glu9245Lys