Canonical Allele Identifier: CA1986106

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 796000
• ClinVar RCV Id: RCV001400708 ; RCV002382206
• dbSNP Id: rs780775160
• ExAC: 2:179401903 G / A
• gnomAD v2: 2-179401903-G-A
• gnomAD v4: 2-178537176-G-A
• MyVariant Identifiers: chr2:g.179401903G>A (hg19) ; chr2:g.178537176G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537176G>A , CM000664.2:g.178537176G>A	GRCh38
NC_000002.11:g.179401903G>A , CM000664.1:g.179401903G>A	GRCh37
NC_000002.10:g.179110149G>A	NCBI36
NG_011618.3:g.298627C>T , LRG_391:g.298627C>T
NG_051363.1:g.19350G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92229C>T (TTN)	ENSP00000343764.6:p.Ser30743=
ENST00000342175.11:c.73314C>T (TTN)	ENSP00000340554.6:p.Ser24438=
ENST00000359218.10:c.73113C>T (TTN)	ENSP00000352154.5:p.Ser24371=
ENST00000342175.10:c.73314C>T (TTN)	ENSP00000340554.6:p.Ser24438=
ENST00000342992.10:c.92229C>T (TTN)	ENSP00000343764.6:p.Ser30743=
ENST00000359218.9:c.73113C>T (TTN)	ENSP00000352154.5:p.Ser24371=
ENST00000460472.6:c.72738C>T (TTN)	ENSP00000434586.1:p.Ser24246=
ENST00000589042.5:c.99933C>T (TTN) MANE Select	ENSP00000467141.1:p.Ser33311=
ENST00000591111.5:c.95010C>T (TTN)	ENSP00000465570.1:p.Ser31670=
ENST00000615779.4:c.95010C>T (TTN)	ENSP00000483597.1:p.Ser31670=
NM_001256850.1:c.95010C>T (TTN)	NP_001243779.1:p.Ser31670=
NM_001267550.2:c.99933C>T (TTN) MANE Select	NP_001254479.2:p.Ser33311=
NM_003319.4:c.72738C>T (TTN)	NP_003310.4:p.Ser24246=
NM_133378.4:c.92229C>T (TTN)	NP_596869.4:p.Ser30743=
NM_133432.3:c.73113C>T (TTN)	NP_597676.3:p.Ser24371=
NM_133437.4:c.73314C>T (TTN)	NP_597681.4:p.Ser24438=
NR_038271.1:n.446+13540G>A (TTN-AS1)
NR_038272.1:n.317-185G>A (TTN-AS1)
XM_011511729.1:c.99030C>T (TTN)	XP_011510031.1:p.Ser33010=
XM_011511730.1:c.72924C>T (TTN)	XP_011510032.1:p.Ser24308=
XM_011511731.1:c.72783C>T (TTN)	XP_011510033.1:p.Ser24261=
XM_017004819.1:c.98826C>T (TTN)	XP_016860308.1:p.Ser32942=
XM_017004820.1:c.94224C>T (TTN)	XP_016860309.1:p.Ser31408=
XM_017004821.1:c.94221C>T (TTN)	XP_016860310.1:p.Ser31407=
XM_017004822.1:c.91263C>T (TTN)	XP_016860311.1:p.Ser30421=
XM_017004823.1:c.72879C>T (TTN)	XP_016860312.1:p.Ser24293=
XM_024453094.1:c.94374C>T (TTN)	XP_024308862.1:p.Ser31458=
XM_024453095.1:c.94371C>T (TTN)	XP_024308863.1:p.Ser31457=
XM_024453096.1:c.93804C>T (TTN)	XP_024308864.1:p.Ser31268=
XM_024453097.1:c.91146C>T (TTN)	XP_024308865.1:p.Ser30382=
XM_024453098.1:c.91065C>T (TTN)	XP_024308866.1:p.Ser30355=
XM_024453099.1:c.72828C>T (TTN)	XP_024308867.1:p.Ser24276=
XM_024453100.1:c.62682C>T (TTN)	XP_024308868.1:p.Ser20894=