Canonical Allele Identifier: CA430241855

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178544376-C-T
• MyVariant Identifiers: chr2:g.179409103C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544376C>T , CM000664.2:g.178544376C>T	GRCh38
NC_000002.11:g.179409103C>T , CM000664.1:g.179409103C>T	GRCh37
NC_000002.10:g.179117349C>T	NCBI36
NG_011618.3:g.291427G>A , LRG_391:g.291427G>A
NG_051363.1:g.26550C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88149G>A (TTN)	ENSP00000343764.6:p.Lys29383=
ENST00000342175.11:c.69234G>A (TTN)	ENSP00000340554.6:p.Lys23078=
ENST00000359218.10:c.69033G>A (TTN)	ENSP00000352154.5:p.Lys23011=
ENST00000342175.10:c.69234G>A (TTN)	ENSP00000340554.6:p.Lys23078=
ENST00000342992.10:c.88149G>A (TTN)	ENSP00000343764.6:p.Lys29383=
ENST00000359218.9:c.69033G>A (TTN)	ENSP00000352154.5:p.Lys23011=
ENST00000460472.6:c.68658G>A (TTN)	ENSP00000434586.1:p.Lys22886=
ENST00000589042.5:c.95853G>A (TTN) MANE Select	ENSP00000467141.1:p.Lys31951=
ENST00000591111.5:c.90930G>A (TTN)	ENSP00000465570.1:p.Lys30310=
ENST00000615779.4:c.90930G>A (TTN)	ENSP00000483597.1:p.Lys30310=
NM_001256850.1:c.90930G>A (TTN)	NP_001243779.1:p.Lys30310=
NM_001267550.2:c.95853G>A (TTN) MANE Select	NP_001254479.2:p.Lys31951=
NM_003319.4:c.68658G>A (TTN)	NP_003310.4:p.Lys22886=
NM_133378.4:c.88149G>A (TTN)	NP_596869.4:p.Lys29383=
NM_133432.3:c.69033G>A (TTN)	NP_597676.3:p.Lys23011=
NM_133437.4:c.69234G>A (TTN)	NP_597681.4:p.Lys23078=
NR_038271.1:n.446+20740C>T (TTN-AS1)
NR_038272.1:n.2043+2015C>T (TTN-AS1)
XM_011511729.1:c.94950G>A (TTN)	XP_011510031.1:p.Lys31650=
XM_011511730.1:c.68844G>A (TTN)	XP_011510032.1:p.Lys22948=
XM_011511731.1:c.68703G>A (TTN)	XP_011510033.1:p.Lys22901=
XM_017004819.1:c.94746G>A (TTN)	XP_016860308.1:p.Lys31582=
XM_017004820.1:c.90144G>A (TTN)	XP_016860309.1:p.Lys30048=
XM_017004821.1:c.90141G>A (TTN)	XP_016860310.1:p.Lys30047=
XM_017004822.1:c.87183G>A (TTN)	XP_016860311.1:p.Lys29061=
XM_017004823.1:c.68799G>A (TTN)	XP_016860312.1:p.Lys22933=
XM_024453094.1:c.90294G>A (TTN)	XP_024308862.1:p.Lys30098=
XM_024453095.1:c.90291G>A (TTN)	XP_024308863.1:p.Lys30097=
XM_024453096.1:c.89724G>A (TTN)	XP_024308864.1:p.Lys29908=
XM_024453097.1:c.87066G>A (TTN)	XP_024308865.1:p.Lys29022=
XM_024453098.1:c.86985G>A (TTN)	XP_024308866.1:p.Lys28995=
XM_024453099.1:c.68748G>A (TTN)	XP_024308867.1:p.Lys22916=
XM_024453100.1:c.58602G>A (TTN)	XP_024308868.1:p.Lys19534=