Canonical Allele Identifier: CA349514407

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 523897
• ClinVar RCV Id: RCV000627373 ; RCV002467946 ; RCV003767844
• dbSNP Id: rs376543931
• MyVariant Identifiers: chr2:g.179417634G>T (hg19) ; chr2:g.178552907G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552907G>T , CM000664.2:g.178552907G>T	GRCh38
NC_000002.11:g.179417634G>T , CM000664.1:g.179417634G>T	GRCh37
NC_000002.10:g.179125880G>T	NCBI36
NG_011618.3:g.282896C>A , LRG_391:g.282896C>A
NG_051363.1:g.35081G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.82289C>A (TTN)	ENSP00000343764.6:p.Ser27430Ter
ENST00000342175.11:c.63374C>A (TTN)	ENSP00000340554.6:p.Ser21125Ter
ENST00000359218.10:c.63173C>A (TTN)	ENSP00000352154.5:p.Ser21058Ter
ENST00000342175.10:c.63374C>A (TTN)	ENSP00000340554.6:p.Ser21125Ter
ENST00000342992.10:c.82289C>A (TTN)	ENSP00000343764.6:p.Ser27430Ter
ENST00000359218.9:c.63173C>A (TTN)	ENSP00000352154.5:p.Ser21058Ter
ENST00000460472.6:c.62798C>A (TTN)	ENSP00000434586.1:p.Ser20933Ter
ENST00000589042.5:c.89993C>A (TTN) MANE Select	ENSP00000467141.1:p.Ser29998Ter
ENST00000591111.5:c.85070C>A (TTN)	ENSP00000465570.1:p.Ser28357Ter
ENST00000615779.4:c.85070C>A (TTN)	ENSP00000483597.1:p.Ser28357Ter
NM_001256850.1:c.85070C>A (TTN)	NP_001243779.1:p.Ser28357Ter
NM_001267550.2:c.89993C>A (TTN) MANE Select	NP_001254479.2:p.Ser29998Ter
NM_003319.4:c.62798C>A (TTN)	NP_003310.4:p.Ser20933Ter
NM_133378.4:c.82289C>A (TTN)	NP_596869.4:p.Ser27430Ter
NM_133432.3:c.63173C>A (TTN)	NP_597676.3:p.Ser21058Ter
NM_133437.4:c.63374C>A (TTN)	NP_597681.4:p.Ser21125Ter
NR_038271.1:n.447-18393G>T (TTN-AS1)
NR_038272.1:n.2043+10546G>T (TTN-AS1)
XM_011511729.1:c.89090C>A (TTN)	XP_011510031.1:p.Ser29697Ter
XM_011511730.1:c.62984C>A (TTN)	XP_011510032.1:p.Ser20995Ter
XM_011511731.1:c.62843C>A (TTN)	XP_011510033.1:p.Ser20948Ter
XM_017004819.1:c.88886C>A (TTN)	XP_016860308.1:p.Ser29629Ter
XM_017004820.1:c.84284C>A (TTN)	XP_016860309.1:p.Ser28095Ter
XM_017004821.1:c.84281C>A (TTN)	XP_016860310.1:p.Ser28094Ter
XM_017004822.1:c.81323C>A (TTN)	XP_016860311.1:p.Ser27108Ter
XM_017004823.1:c.62939C>A (TTN)	XP_016860312.1:p.Ser20980Ter
XM_024453094.1:c.84434C>A (TTN)	XP_024308862.1:p.Ser28145Ter
XM_024453095.1:c.84431C>A (TTN)	XP_024308863.1:p.Ser28144Ter
XM_024453096.1:c.83864C>A (TTN)	XP_024308864.1:p.Ser27955Ter
XM_024453097.1:c.81206C>A (TTN)	XP_024308865.1:p.Ser27069Ter
XM_024453098.1:c.81125C>A (TTN)	XP_024308866.1:p.Ser27042Ter
XM_024453099.1:c.62888C>A (TTN)	XP_024308867.1:p.Ser20963Ter
XM_024453100.1:c.52742C>A (TTN)	XP_024308868.1:p.Ser17581Ter