Canonical Allele Identifier: CA430241649

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1354071349
• gnomAD v2: 2-179408944-C-T
• gnomAD v4: 2-178544217-C-T
• MyVariant Identifiers: chr2:g.179408944C>T (hg19) ; chr2:g.178544217C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544217C>T , CM000664.2:g.178544217C>T	GRCh38
NC_000002.11:g.179408944C>T , CM000664.1:g.179408944C>T	GRCh37
NC_000002.10:g.179117190C>T	NCBI36
NG_011618.3:g.291586G>A , LRG_391:g.291586G>A
NG_051363.1:g.26391C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88308G>A (TTN)	ENSP00000343764.6:p.Glu29436=
ENST00000342175.11:c.69393G>A (TTN)	ENSP00000340554.6:p.Glu23131=
ENST00000359218.10:c.69192G>A (TTN)	ENSP00000352154.5:p.Glu23064=
ENST00000342175.10:c.69393G>A (TTN)	ENSP00000340554.6:p.Glu23131=
ENST00000342992.10:c.88308G>A (TTN)	ENSP00000343764.6:p.Glu29436=
ENST00000359218.9:c.69192G>A (TTN)	ENSP00000352154.5:p.Glu23064=
ENST00000460472.6:c.68817G>A (TTN)	ENSP00000434586.1:p.Glu22939=
ENST00000589042.5:c.96012G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu32004=
ENST00000591111.5:c.91089G>A (TTN)	ENSP00000465570.1:p.Glu30363=
ENST00000615779.4:c.91089G>A (TTN)	ENSP00000483597.1:p.Glu30363=
NM_001256850.1:c.91089G>A (TTN)	NP_001243779.1:p.Glu30363=
NM_001267550.2:c.96012G>A (TTN) MANE Select	NP_001254479.2:p.Glu32004=
NM_003319.4:c.68817G>A (TTN)	NP_003310.4:p.Glu22939=
NM_133378.4:c.88308G>A (TTN)	NP_596869.4:p.Glu29436=
NM_133432.3:c.69192G>A (TTN)	NP_597676.3:p.Glu23064=
NM_133437.4:c.69393G>A (TTN)	NP_597681.4:p.Glu23131=
NR_038271.1:n.446+20581C>T (TTN-AS1)
NR_038272.1:n.2043+1856C>T (TTN-AS1)
XM_011511729.1:c.95109G>A (TTN)	XP_011510031.1:p.Glu31703=
XM_011511730.1:c.69003G>A (TTN)	XP_011510032.1:p.Glu23001=
XM_011511731.1:c.68862G>A (TTN)	XP_011510033.1:p.Glu22954=
XM_017004819.1:c.94905G>A (TTN)	XP_016860308.1:p.Glu31635=
XM_017004820.1:c.90303G>A (TTN)	XP_016860309.1:p.Glu30101=
XM_017004821.1:c.90300G>A (TTN)	XP_016860310.1:p.Glu30100=
XM_017004822.1:c.87342G>A (TTN)	XP_016860311.1:p.Glu29114=
XM_017004823.1:c.68958G>A (TTN)	XP_016860312.1:p.Glu22986=
XM_024453094.1:c.90453G>A (TTN)	XP_024308862.1:p.Glu30151=
XM_024453095.1:c.90450G>A (TTN)	XP_024308863.1:p.Glu30150=
XM_024453096.1:c.89883G>A (TTN)	XP_024308864.1:p.Glu29961=
XM_024453097.1:c.87225G>A (TTN)	XP_024308865.1:p.Glu29075=
XM_024453098.1:c.87144G>A (TTN)	XP_024308866.1:p.Glu29048=
XM_024453099.1:c.68907G>A (TTN)	XP_024308867.1:p.Glu22969=
XM_024453100.1:c.58761G>A (TTN)	XP_024308868.1:p.Glu19587=